Related gene-specific medical variations for Gene (Select 22954) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3182377	NM_012210.4(TRIM32):c.457T>A (p.Leu153Ile)	ASTN2, TRIM32 (L153I)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3182376	NM_012210.4(TRIM32):c.323C>T (p.Pro108Leu)	ASTN2, TRIM32 (P108L)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3035125	NM_012210.4(TRIM32):c.757C>T (p.Leu253=)	ASTN2, TRIM32	Single nucleotide variant (synonymous variant +1 more)	TRIM32-related disorder	GLikely benign
Select item 3031578	NM_012210.4(TRIM32):c.1663G>T (p.Val555Leu)	ASTN2, TRIM32 (V555L)	Single nucleotide variant (missense variant +1 more)	TRIM32-related disorder	GUncertain significance
Select item 3030784	NM_012210.4(TRIM32):c.647C>G (p.Ser216Cys)	ASTN2, TRIM32 (S216C)	Single nucleotide variant (missense variant +1 more)	TRIM32-related disorder	GUncertain significance
Select item 3029594	NM_012210.4(TRIM32):c.-6A>G	ASTN2, TRIM32	Single nucleotide variant (5 prime UTR variant +1 more)	TRIM32-related disorder	GLikely benign
Select item 3022723	NM_012210.4(TRIM32):c.1491A>G (p.Thr497=)	ASTN2, TRIM32	Single nucleotide variant (synonymous variant +1 more)	Bardet-Biedl syndrome	GLikely benign
Select item 3020466	NM_012210.4(TRIM32):c.663A>C (p.Val221=)	ASTN2, TRIM32	Single nucleotide variant (synonymous variant +1 more)	Bardet-Biedl syndrome	GLikely benign
Select item 3017874	NM_012210.4(TRIM32):c.1218A>G (p.Glu406=)	ASTN2, TRIM32	Single nucleotide variant (synonymous variant +1 more)	Bardet-Biedl syndrome	GLikely benign
Select item 3017140	NM_012210.4(TRIM32):c.1499G>A (p.Arg500Gln)	ASTN2, TRIM32 (R500Q)	Single nucleotide variant (missense variant +1 more)	Bardet-Biedl syndrome	GUncertain significance
Select item 3010391	NM_012210.4(TRIM32):c.1569T>C (p.Ala523=)	ASTN2, TRIM32	Single nucleotide variant (synonymous variant +1 more)	Bardet-Biedl syndrome	GLikely benign
Select item 3009107	NM_012210.4(TRIM32):c.1515C>T (p.Val505=)	ASTN2, TRIM32	Single nucleotide variant (synonymous variant +1 more)	Bardet-Biedl syndrome	GLikely benign
Select item 3003160	NM_012210.4(TRIM32):c.1740C>G (p.Gly580=)	ASTN2, TRIM32	Single nucleotide variant (synonymous variant +1 more)	Bardet-Biedl syndrome	GLikely benign
Select item 3003159	NM_012210.4(TRIM32):c.1638G>A (p.Leu546=)	ASTN2, TRIM32	Single nucleotide variant (synonymous variant +1 more)	Bardet-Biedl syndrome	GLikely benign
Select item 3002206	NM_012210.4(TRIM32):c.1899G>A (p.Leu633=)	ASTN2, TRIM32	Single nucleotide variant (synonymous variant +1 more)	Bardet-Biedl syndrome	GLikely benign
Select item 2999629	NM_012210.4(TRIM32):c.1263C>T (p.Phe421=)	ASTN2, TRIM32	Single nucleotide variant (synonymous variant +1 more)	Bardet-Biedl syndrome	GLikely benign
Select item 2999586	NM_012210.4(TRIM32):c.1125C>T (p.Val375=)	ASTN2, TRIM32	Single nucleotide variant (synonymous variant +1 more)	Bardet-Biedl syndrome	GLikely benign
Select item 2996924	NM_012210.4(TRIM32):c.597G>A (p.Leu199=)	ASTN2, TRIM32	Single nucleotide variant (synonymous variant +1 more)	Bardet-Biedl syndrome	GLikely benign
Select item 2988750	NM_012210.4(TRIM32):c.154T>C (p.Leu52=)	ASTN2, TRIM32	Single nucleotide variant (intron variant +1 more)	Bardet-Biedl syndrome	GLikely benign
Select item 2987058	NM_012210.4(TRIM32):c.27G>T (p.Leu9=)	ASTN2, TRIM32	Single nucleotide variant (synonymous variant +1 more)	Bardet-Biedl syndrome	GLikely benign
Select item 2978046	NM_012210.4(TRIM32):c.1173T>C (p.Gly391=)	ASTN2, TRIM32	Single nucleotide variant (intron variant +1 more)	Bardet-Biedl syndrome	GLikely benign
Select item 2959050	NM_012210.4(TRIM32):c.1464G>A (p.Val488=)	ASTN2, TRIM32	Single nucleotide variant (synonymous variant +1 more)	Bardet-Biedl syndrome	GLikely benign
Select item 2954868	NM_012210.4(TRIM32):c.240G>C (p.Leu80=)	ASTN2, TRIM32	Single nucleotide variant (intron variant +1 more)	Bardet-Biedl syndrome	GLikely benign
Select item 2914129	NM_012210.4(TRIM32):c.1677G>A (p.Gly559=)	ASTN2, TRIM32	Single nucleotide variant (synonymous variant +1 more)	Bardet-Biedl syndrome	GLikely benign
Select item 2913518	NM_012210.4(TRIM32):c.27G>A (p.Leu9=)	ASTN2, TRIM32	Single nucleotide variant (synonymous variant +1 more)	Bardet-Biedl syndrome	GLikely benign
Select item 2912578	NM_012210.4(TRIM32):c.510G>A (p.Leu170=)	ASTN2, TRIM32	Single nucleotide variant (synonymous variant +1 more)	Bardet-Biedl syndrome	GLikely benign
Select item 2911041	NM_012210.4(TRIM32):c.243A>G (p.Thr81=)	ASTN2, TRIM32	Single nucleotide variant (synonymous variant +1 more)	Bardet-Biedl syndrome	GLikely benign
Select item 2908560	NM_012210.4(TRIM32):c.826C>T (p.Gln276Ter)	ASTN2, TRIM32 (Q276*)	Single nucleotide variant (nonsense +1 more)	Bardet-Biedl syndrome	GPathogenic
Select item 2900160	NM_012210.4(TRIM32):c.242C>T (p.Thr81Ile)	ASTN2, TRIM32 (T81I)	Single nucleotide variant (missense variant +1 more)	Bardet-Biedl syndrome	GUncertain significance
Select item 2900104	NM_012210.4(TRIM32):c.1059G>A (p.Gln353=)	ASTN2, TRIM32	Single nucleotide variant (synonymous variant +1 more)	Bardet-Biedl syndrome	GLikely benign
Select item 2899637	NM_012210.4(TRIM32):c.471G>A (p.Arg157=)	ASTN2, TRIM32	Single nucleotide variant (synonymous variant +1 more)	Bardet-Biedl syndrome	GLikely benign
Select item 2894496	NM_012210.4(TRIM32):c.468G>T (p.Leu156=)	ASTN2, TRIM32	Single nucleotide variant (synonymous variant +1 more)	Bardet-Biedl syndrome	GLikely benign
Select item 2889519	NM_012210.4(TRIM32):c.363G>A (p.Glu121=)	ASTN2, TRIM32	Single nucleotide variant (synonymous variant +1 more)	Bardet-Biedl syndrome	GLikely benign
Select item 2888396	NM_012210.4(TRIM32):c.1527C>T (p.Cys509=)	ASTN2, TRIM32	Single nucleotide variant (synonymous variant +1 more)	Bardet-Biedl syndrome	GLikely benign
Select item 2870901	NM_012210.4(TRIM32):c.1087del (p.Ala363fs)	ASTN2, TRIM32 (A363fs)	Deletion (frameshift variant +1 more)	Bardet-Biedl syndrome	GPathogenic
Select item 2866183	NM_012210.4(TRIM32):c.351G>A (p.Leu117=)	ASTN2, TRIM32	Single nucleotide variant (synonymous variant +1 more)	Bardet-Biedl syndrome	GLikely benign
Select item 2865358	NM_012210.4(TRIM32):c.1719G>A (p.Glu573=)	ASTN2, TRIM32	Single nucleotide variant (synonymous variant +1 more)	Bardet-Biedl syndrome	GLikely benign
Select item 2862430	NM_012210.4(TRIM32):c.780G>A (p.Glu260=)	ASTN2, TRIM32	Single nucleotide variant (synonymous variant +1 more)	Bardet-Biedl syndrome	GLikely benign
Select item 2861656	NM_012210.4(TRIM32):c.42C>A (p.Leu14=)	ASTN2, TRIM32	Single nucleotide variant (synonymous variant +1 more)	Bardet-Biedl syndrome	GLikely benign
Select item 2860248	NM_012210.4(TRIM32):c.1386G>T (p.Val462=)	ASTN2, TRIM32	Single nucleotide variant (synonymous variant +1 more)	Bardet-Biedl syndrome	GLikely benign
Select item 2859590	NM_012210.4(TRIM32):c.1512G>C (p.Val504=)	ASTN2, TRIM32	Single nucleotide variant (synonymous variant +1 more)	Bardet-Biedl syndrome	GLikely benign
Select item 2859528	NM_012210.4(TRIM32):c.1221C>A (p.Ile407=)	ASTN2, TRIM32	Single nucleotide variant (synonymous variant +1 more)	Bardet-Biedl syndrome	GLikely benign
Select item 2857457	NM_012210.4(TRIM32):c.753A>C (p.Val251=)	ASTN2, TRIM32	Single nucleotide variant (synonymous variant +1 more)	Bardet-Biedl syndrome	GLikely benign
Select item 2856342	NM_012210.4(TRIM32):c.1506A>G (p.Ser502=)	ASTN2, TRIM32	Single nucleotide variant (synonymous variant +1 more)	Bardet-Biedl syndrome	GLikely benign
Select item 2856065	NM_012210.4(TRIM32):c.909G>C (p.Val303=)	ASTN2, TRIM32	Single nucleotide variant (synonymous variant +1 more)	Bardet-Biedl syndrome	GLikely benign
Select item 2850071	NM_012210.4(TRIM32):c.792G>A (p.Glu264=)	ASTN2, TRIM32	Single nucleotide variant (synonymous variant +1 more)	Bardet-Biedl syndrome	GLikely benign
Select item 2849696	NM_012210.4(TRIM32):c.1443C>A (p.Gly481=)	ASTN2, TRIM32	Single nucleotide variant (synonymous variant +1 more)	Bardet-Biedl syndrome	GLikely benign
Select item 2849031	NM_012210.4(TRIM32):c.723C>T (p.Tyr241=)	ASTN2, TRIM32	Single nucleotide variant (synonymous variant +1 more)	Bardet-Biedl syndrome	GLikely benign
Select item 2848483	NM_012210.4(TRIM32):c.894C>G (p.Pro298=)	ASTN2, TRIM32	Single nucleotide variant (synonymous variant +1 more)	Bardet-Biedl syndrome	GLikely benign
Select item 2846291	NM_012210.4(TRIM32):c.1611G>T (p.Leu537=)	ASTN2, TRIM32	Single nucleotide variant (intron variant +1 more)	Bardet-Biedl syndrome	GLikely benign
Select item 2845784	NM_012210.4(TRIM32):c.1872A>G (p.Leu624=)	ASTN2, TRIM32	Single nucleotide variant (synonymous variant +1 more)	Bardet-Biedl syndrome	GLikely benign
Select item 2845594	NM_012210.4(TRIM32):c.624C>A (p.Gly208=)	ASTN2, TRIM32	Single nucleotide variant (intron variant +1 more)	Bardet-Biedl syndrome	GLikely benign
Select item 2841884	NM_012210.4(TRIM32):c.924C>A (p.Ala308=)	ASTN2, TRIM32	Single nucleotide variant (synonymous variant +1 more)	Bardet-Biedl syndrome	GLikely benign
Select item 2838730	NM_012210.4(TRIM32):c.1758T>C (p.Arg586=)	ASTN2, TRIM32	Single nucleotide variant (synonymous variant +1 more)	Bardet-Biedl syndrome	GLikely benign
Select item 2835521	NM_012210.4(TRIM32):c.267T>C (p.Ala89=)	ASTN2, TRIM32	Single nucleotide variant (synonymous variant +1 more)	Bardet-Biedl syndrome	GLikely benign
Select item 2832965	NM_012210.4(TRIM32):c.624C>T (p.Gly208=)	ASTN2, TRIM32	Single nucleotide variant (synonymous variant +1 more)	Bardet-Biedl syndrome	GLikely benign
Select item 2828724	NM_012210.4(TRIM32):c.1030C>A (p.Arg344=)	ASTN2, TRIM32	Single nucleotide variant (synonymous variant +1 more)	Bardet-Biedl syndrome	GLikely benign
Select item 2821429	NM_012210.4(TRIM32):c.957T>C (p.Ser319=)	ASTN2, TRIM32	Single nucleotide variant (synonymous variant +1 more)	Bardet-Biedl syndrome	GLikely benign
Select item 2820674	NM_012210.4(TRIM32):c.111G>A (p.Leu37=)	ASTN2, TRIM32	Single nucleotide variant (synonymous variant +1 more)	Bardet-Biedl syndrome	GLikely benign
Select item 2818852	NM_012210.4(TRIM32):c.1888C>T (p.Leu630=)	ASTN2, TRIM32	Single nucleotide variant (synonymous variant +1 more)	Bardet-Biedl syndrome	GLikely benign
Select item 2817939	NM_012210.4(TRIM32):c.1458C>G (p.Thr486=)	ASTN2, TRIM32	Single nucleotide variant (synonymous variant +1 more)	Bardet-Biedl syndrome	GLikely benign
Select item 2815889	NM_012210.4(TRIM32):c.1563dup (p.Asp522Ter)	ASTN2, TRIM32 (D522*)	Duplication (nonsense +1 more)	Bardet-Biedl syndrome	GPathogenic
Select item 2814885	NM_012210.4(TRIM32):c.1602C>T (p.Gly534=)	ASTN2, TRIM32	Single nucleotide variant (synonymous variant +1 more)	Bardet-Biedl syndrome	GLikely benign
Select item 2814669	NM_012210.4(TRIM32):c.1437A>G (p.Pro479=)	ASTN2, TRIM32	Single nucleotide variant (synonymous variant +1 more)	Bardet-Biedl syndrome	GLikely benign
Select item 2814310	NM_012210.4(TRIM32):c.1314C>T (p.Cys438=)	ASTN2, TRIM32	Single nucleotide variant (synonymous variant +1 more)	Bardet-Biedl syndrome	GLikely benign
Select item 2813433	NM_012210.4(TRIM32):c.498del (p.Lys167fs)	ASTN2, TRIM32 (K167fs)	Deletion (frameshift variant +1 more)	Bardet-Biedl syndrome	GPathogenic
Select item 2811384	NM_012210.4(TRIM32):c.201del (p.Thr68fs)	ASTN2, TRIM32 (T68fs)	Deletion (frameshift variant +1 more)	Bardet-Biedl syndrome	GPathogenic
Select item 2804891	NM_012210.4(TRIM32):c.763G>T (p.Glu255Ter)	ASTN2, TRIM32 (E255*)	Single nucleotide variant (nonsense +1 more)	Bardet-Biedl syndrome	GPathogenic
Select item 2802244	NM_012210.4(TRIM32):c.654T>C (p.Ser218=)	ASTN2, TRIM32	Single nucleotide variant (synonymous variant +1 more)	Bardet-Biedl syndrome	GLikely benign
Select item 2801910	NM_012210.4(TRIM32):c.1152A>G (p.Glu384=)	ASTN2, TRIM32	Single nucleotide variant (synonymous variant +1 more)	Bardet-Biedl syndrome	GLikely benign
Select item 2797323	NM_012210.4(TRIM32):c.217T>C (p.Leu73=)	ASTN2, TRIM32	Single nucleotide variant (synonymous variant +1 more)	Bardet-Biedl syndrome	GLikely benign
Select item 2785051	NM_012210.4(TRIM32):c.1505C>G (p.Ser502Ter)	ASTN2, TRIM32 (S502*)	Single nucleotide variant (nonsense +1 more)	Bardet-Biedl syndrome	GPathogenic
Select item 2784570	NM_012210.4(TRIM32):c.190del (p.Cys64fs)	ASTN2, TRIM32 (C64fs)	Deletion (frameshift variant +1 more)	Bardet-Biedl syndrome	GPathogenic
Select item 2780044	NM_012210.4(TRIM32):c.232_235del (p.Asp78fs)	ASTN2, TRIM32 (D78fs)	Microsatellite (frameshift variant +1 more)	Bardet-Biedl syndrome	GPathogenic
Select item 2779427	NM_012210.4(TRIM32):c.1671T>C (p.Pro557=)	ASTN2, TRIM32	Single nucleotide variant (synonymous variant +1 more)	Bardet-Biedl syndrome	GLikely benign
Select item 2769381	NM_012210.4(TRIM32):c.21T>A (p.Ser7=)	ASTN2, TRIM32	Single nucleotide variant (synonymous variant +1 more)	Bardet-Biedl syndrome	GLikely benign
Select item 2768571	NM_012210.4(TRIM32):c.920G>A (p.Trp307Ter)	ASTN2, TRIM32 (W307*)	Single nucleotide variant (nonsense +1 more)	Bardet-Biedl syndrome	GPathogenic
Select item 2768280	NM_012210.4(TRIM32):c.423A>G (p.Ala141=)	ASTN2, TRIM32	Single nucleotide variant (synonymous variant +1 more)	Bardet-Biedl syndrome	GLikely benign
Select item 2767605	NM_012210.4(TRIM32):c.963T>G (p.Thr321=)	ASTN2, TRIM32	Single nucleotide variant (synonymous variant +1 more)	Bardet-Biedl syndrome	GLikely benign
Select item 2767050	NM_012210.4(TRIM32):c.1857G>C (p.Pro619=)	ASTN2, TRIM32	Single nucleotide variant (synonymous variant +1 more)	Bardet-Biedl syndrome	GLikely benign
Select item 2764711	NM_012210.4(TRIM32):c.222C>T (p.Thr74=)	ASTN2, TRIM32	Single nucleotide variant (synonymous variant +1 more)	Bardet-Biedl syndrome	GLikely benign
Select item 2762967	NM_012210.4(TRIM32):c.1521C>T (p.Tyr507=)	ASTN2, TRIM32	Single nucleotide variant (synonymous variant +1 more)	Bardet-Biedl syndrome	GLikely benign
Select item 2762269	NM_012210.4(TRIM32):c.1560C>G (p.Thr520=)	ASTN2, TRIM32	Single nucleotide variant (synonymous variant +1 more)	Bardet-Biedl syndrome	GLikely benign
Select item 2760047	NM_012210.4(TRIM32):c.1104A>C (p.Pro368=)	ASTN2, TRIM32	Single nucleotide variant (synonymous variant +1 more)	Bardet-Biedl syndrome	GLikely benign
Select item 2759748	NM_012210.4(TRIM32):c.1653C>T (p.Ser551=)	ASTN2, TRIM32	Single nucleotide variant (synonymous variant +1 more)	Bardet-Biedl syndrome	GLikely benign
Select item 2758397	NM_012210.4(TRIM32):c.1362A>G (p.Val454=)	ASTN2, TRIM32	Single nucleotide variant (synonymous variant +1 more)	Bardet-Biedl syndrome	GLikely benign
Select item 2756942	NM_012210.4(TRIM32):c.621A>C (p.Thr207=)	ASTN2, TRIM32	Single nucleotide variant (synonymous variant +1 more)	Bardet-Biedl syndrome	GLikely benign
Select item 2755842	NM_012210.4(TRIM32):c.741_745dup (p.Ala249fs)	ASTN2, TRIM32 (A249fs)	Duplication (frameshift variant +1 more)	Bardet-Biedl syndrome	GPathogenic
Select item 2755083	NM_012210.4(TRIM32):c.1146A>G (p.Gln382=)	ASTN2, TRIM32	Single nucleotide variant (synonymous variant +1 more)	Bardet-Biedl syndrome	GLikely benign
Select item 2754651	NM_012210.4(TRIM32):c.1125C>G (p.Val375=)	ASTN2, TRIM32	Single nucleotide variant (synonymous variant +1 more)	Bardet-Biedl syndrome	GLikely benign
Select item 2753423	NM_012210.4(TRIM32):c.1188del (p.Val397fs)	ASTN2, TRIM32 (V397fs)	Deletion (frameshift variant +1 more)	Bardet-Biedl syndrome	GPathogenic
Select item 2751897	NM_012210.4(TRIM32):c.369C>T (p.Cys123=)	ASTN2, TRIM32	Single nucleotide variant (synonymous variant +1 more)	Bardet-Biedl syndrome	GLikely benign
Select item 2750667	NM_012210.4(TRIM32):c.341del (p.Ser114fs)	ASTN2, TRIM32 (S114fs)	Deletion (frameshift variant +1 more)	Bardet-Biedl syndrome	GPathogenic
Select item 2750372	NM_012210.4(TRIM32):c.921G>A (p.Trp307Ter)	ASTN2, TRIM32 (W307*)	Single nucleotide variant (nonsense +1 more)	Bardet-Biedl syndrome	GPathogenic
Select item 2749003	NM_012210.4(TRIM32):c.1167C>T (p.Asp389=)	ASTN2, TRIM32	Single nucleotide variant (synonymous variant +1 more)	Bardet-Biedl syndrome	GLikely benign
Select item 2748032	NM_012210.4(TRIM32):c.1932C>T (p.Ser644=)	ASTN2, TRIM32	Single nucleotide variant (synonymous variant +1 more)	Bardet-Biedl syndrome	GLikely benign
Select item 2745801	NM_012210.4(TRIM32):c.822C>A (p.Thr274=)	ASTN2, TRIM32	Single nucleotide variant (synonymous variant +1 more)	Bardet-Biedl syndrome	GLikely benign
Select item 2739417	NM_012210.4(TRIM32):c.699_700delinsCT (p.Gln234Ter)	ASTN2, TRIM32 (Q234*)	Indel (nonsense +1 more)	Bardet-Biedl syndrome	GPathogenic
Select item 2737764	NM_012210.4(TRIM32):c.1002C>G (p.Ala334=)	ASTN2, TRIM32	Single nucleotide variant (synonymous variant +1 more)	Bardet-Biedl syndrome	GLikely benign
Select item 2736633	NM_012210.4(TRIM32):c.249A>C (p.Leu83=)	TRIM32, ASTN2	Single nucleotide variant (synonymous variant +1 more)	Bardet-Biedl syndrome	GLikely benign

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