"IGSF10-related disorder"[Disease/phenotype] AND "PreventionGenetics, - ClinVar

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Items: 77

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 708312	NM_178822.5(IGSF10):c.7840G>A (p.Asp2614Asn)	IGSF10, MED12L (D2614N +1 more)	Single nucleotide variant (missense variant)	IGSF10-related disorder +1 more	GBenign
Select item 1614226	NM_178822.5(IGSF10):c.7735C>T (p.His2579Tyr)	IGSF10 (H2579Y +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 1598558	NM_178822.5(IGSF10):c.7683A>G (p.Thr2561=)	IGSF10	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 732950	NM_178822.5(IGSF10):c.7568T>C (p.Ile2523Thr)	IGSF10 (I2523T +1 more)	Single nucleotide variant (missense variant)	IGSF10-related disorder +1 more	GBenign
Select item 2720758	NM_178822.5(IGSF10):c.7548_7551dup (p.Thr2518fs)	IGSF10 (T497fs +1 more)	Duplication (frameshift variant)	IGSF10-related disorder +1 more	GBenign
Select item 775917	NM_178822.5(IGSF10):c.7348C>T (p.Leu2450=)	IGSF10	Single nucleotide variant (synonymous variant)	IGSF10-related disorder +1 more	GBenign/Likely benign
Select item 787612	NM_178822.5(IGSF10):c.7305T>C (p.Leu2435=)	IGSF10	Single nucleotide variant (synonymous variant)	IGSF10-related disorder +1 more	GBenign/Likely benign
Select item 787613	NM_178822.5(IGSF10):c.7254C>T (p.Gly2418=)	IGSF10	Single nucleotide variant (synonymous variant)	IGSF10-related disorder +1 more	GBenign/Likely benign
Select item 767939	NM_178822.5(IGSF10):c.7152A>G (p.Gln2384=)	IGSF10	Single nucleotide variant (synonymous variant)	IGSF10-related disorder +1 more	GBenign
Select item 2051037	NM_178822.5(IGSF10):c.7080T>C (p.Ser2360=)	IGSF10	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 1640207	NM_178822.5(IGSF10):c.6966C>T (p.Ser2322=)	IGSF10	Single nucleotide variant (synonymous variant)	IGSF10-related disorder +1 more	GBenign
Select item 1600158	NM_178822.5(IGSF10):c.6729C>T (p.Asn2243=)	IGSF10	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 1599482	NM_178822.5(IGSF10):c.6591T>G (p.Ser2197=)	IGSF10	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 773140	NM_178822.5(IGSF10):c.6483T>C (p.Leu2161=)	IGSF10	Single nucleotide variant (synonymous variant)	IGSF10-related disorder +1 more	GBenign
Select item 3035993	NM_178822.5(IGSF10):c.6457A>G (p.Ile2153Val)	IGSF10 (I132V +1 more)	Single nucleotide variant (missense variant)	IGSF10-related disorder	GLikely benign
Select item 732951	NM_178822.5(IGSF10):c.6447C>T (p.Thr2149=)	IGSF10	Single nucleotide variant (synonymous variant)	IGSF10-related disorder +1 more	GBenign
Select item 3045294	NM_178822.5(IGSF10):c.6405A>C (p.Thr2135=)	IGSF10	Single nucleotide variant (synonymous variant)	IGSF10-related disorder	GLikely benign
Select item 791957	NM_178822.5(IGSF10):c.6336G>A (p.Ala2112=)	IGSF10	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 3045893	NM_178822.5(IGSF10):c.6245A>G (p.Asn2082Ser)	IGSF10 (N2082S +1 more)	Single nucleotide variant (missense variant)	IGSF10-related disorder	GLikely benign
Select item 3050007	NM_178822.5(IGSF10):c.6215G>A (p.Trp2072Ter)	IGSF10 (W2072* +1 more)	Single nucleotide variant (nonsense)	IGSF10-related disorder	GUncertain significance
Select item 2635003	NM_178822.5(IGSF10):c.6073G>C (p.Asp2025His)	IGSF10 (D2025H +1 more)	Single nucleotide variant (missense variant)	IGSF10-related disorder	GUncertain significance
Select item 2064207	NM_178822.5(IGSF10):c.6006T>G (p.Phe2002Leu)	IGSF10 (F2002L)	Single nucleotide variant (5 prime UTR variant +1 more)	IGSF10-related disorder +1 more	GConflicting classifications of pathogenicity
Select item 1546554	NM_178822.5(IGSF10):c.5623T>C (p.Tyr1875His)	IGSF10 (Y1875H)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 788851	NM_178822.5(IGSF10):c.5405A>T (p.Asp1802Val)	IGSF10 (D1802V)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely benign
Select item 769616	NM_178822.5(IGSF10):c.5307A>G (p.Ala1769=)	IGSF10	Single nucleotide variant (synonymous variant)	IGSF10-related disorder +1 more	GBenign
Select item 2073000	NM_178822.5(IGSF10):c.5062+5G>A	IGSF10	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 2074505	NM_178822.5(IGSF10):c.4737A>T (p.Pro1579=)	IGSF10	Single nucleotide variant (synonymous variant)	IGSF10-related disorder +1 more	GLikely benign
Select item 710624	NM_178822.5(IGSF10):c.4636C>T (p.Leu1546=)	IGSF10	Single nucleotide variant (synonymous variant)	IGSF10-related disorder +1 more	GBenign/Likely benign
Select item 718428	NM_178822.5(IGSF10):c.4596C>T (p.Ala1532=)	IGSF10	Single nucleotide variant (synonymous variant)	IGSF10-related disorder +1 more	GBenign/Likely benign
Select item 789719	NM_178822.5(IGSF10):c.4564G>A (p.Val1522Ile)	IGSF10 (V1522I)	Single nucleotide variant (missense variant)	IGSF10-related disorder +1 more	GBenign
Select item 773451	NM_178822.5(IGSF10):c.4146C>T (p.Ala1382=)	IGSF10	Single nucleotide variant (synonymous variant)	IGSF10-related disorder +1 more	GBenign/Likely benign
Select item 789720	NM_178822.5(IGSF10):c.4109C>T (p.Thr1370Ile)	IGSF10 (T1370I)	Single nucleotide variant (missense variant)	IGSF10-related disorder +1 more	GBenign
Select item 789721	NM_178822.5(IGSF10):c.4104C>T (p.Phe1368=)	IGSF10	Single nucleotide variant (synonymous variant)	IGSF10-related disorder +1 more	GBenign/Likely benign
Select item 2713286	NM_178822.5(IGSF10):c.3972C>T (p.Thr1324=)	IGSF10	Single nucleotide variant (synonymous variant)	IGSF10-related disorder +1 more	GLikely benign
Select item 1596734	NM_178822.5(IGSF10):c.3931A>G (p.Ile1311Val)	IGSF10 (I1311V)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 2073001	NM_178822.5(IGSF10):c.3856A>G (p.Lys1286Glu)	IGSF10 (K1286E)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 2637101	NM_178822.5(IGSF10):c.3834_3835del (p.His1278fs)	IGSF10 (H1278fs)	Microsatellite (frameshift variant)	IGSF10-related disorder	GUncertain significance
Select item 1595795	NM_178822.5(IGSF10):c.3797C>G (p.Thr1266Ser)	IGSF10 (T1266S)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely benign
Select item 787614	NM_178822.5(IGSF10):c.3712A>G (p.Thr1238Ala)	IGSF10 (T1238A)	Single nucleotide variant (missense variant)	IGSF10-related disorder +1 more	GBenign/Likely benign
Select item 1611157	NM_178822.5(IGSF10):c.3595T>G (p.Ser1199Ala)	IGSF10 (S1199A)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 3048725	NM_178822.5(IGSF10):c.3537G>A (p.Ser1179=)	IGSF10	Single nucleotide variant (synonymous variant)	IGSF10-related disorder	GLikely benign
Select item 720181	NM_178822.5(IGSF10):c.3477C>T (p.Asn1159=)	IGSF10	Single nucleotide variant (synonymous variant)	IGSF10-related disorder +1 more	GLikely benign
Select item 1557961	NM_178822.5(IGSF10):c.3321G>A (p.Gln1107=)	IGSF10	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 2048236	NM_178822.5(IGSF10):c.3104G>C (p.Arg1035Thr)	IGSF10 (R1035T)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely benign
Select item 3040631	NM_178822.5(IGSF10):c.3051C>A (p.Gly1017=)	IGSF10	Single nucleotide variant (synonymous variant)	IGSF10-related disorder	GLikely benign
Select item 724086	NM_178822.5(IGSF10):c.2942C>T (p.Thr981Met)	IGSF10 (T981M)	Single nucleotide variant (missense variant)	IGSF10-related disorder +1 more	GLikely benign
Select item 789722	NM_178822.5(IGSF10):c.2878G>C (p.Glu960Gln)	IGSF10 (E960Q)	Single nucleotide variant (missense variant)	IGSF10-related disorder +1 more	GBenign
Select item 1588233	NM_178822.5(IGSF10):c.2852C>A (p.Thr951Lys)	IGSF10 (T951K)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely benign
Select item 2115239	NM_178822.5(IGSF10):c.2663A>C (p.Gln888Pro)	IGSF10 (Q888P)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely benign
Select item 3052683	NM_178822.5(IGSF10):c.2607C>T (p.Ala869=)	IGSF10	Single nucleotide variant (synonymous variant)	IGSF10-related disorder	GLikely benign
Select item 2040716	NM_178822.5(IGSF10):c.2383G>A (p.Asp795Asn)	IGSF10 (D795N)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 3057380	NM_178822.5(IGSF10):c.2275C>T (p.Leu759=)	IGSF10	Single nucleotide variant (synonymous variant)	IGSF10-related disorder	GLikely benign
Select item 779232	NM_178822.5(IGSF10):c.2237C>G (p.Pro746Arg)	IGSF10 (P746R)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 708167	NM_178822.5(IGSF10):c.2210_2211del (p.Arg736_Phe737insTer)	IGSF10	Deletion (nonsense)	IGSF10-related disorder +1 more	GLikely benign
Select item 3044914	NM_178822.5(IGSF10):c.2180A>G (p.Gln727Arg)	IGSF10 (Q727R)	Single nucleotide variant (missense variant)	IGSF10-related disorder	GLikely benign
Select item 2040718	NM_178822.5(IGSF10):c.2165G>A (p.Arg722Gln)	IGSF10 (R722Q)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 724087	NM_178822.5(IGSF10):c.2126G>T (p.Gly709Val)	IGSF10 (G709V)	Single nucleotide variant (missense variant)	IGSF10-related disorder +1 more	GLikely benign
Select item 1265004	NM_178822.5(IGSF10):c.2091A>G (p.Gln697=)	IGSF10	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 790546	NM_178822.5(IGSF10):c.1999C>A (p.Gln667Lys)	IGSF10 (Q667K)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely benign
Select item 1600842	NM_178822.5(IGSF10):c.1991T>C (p.Met664Thr)	IGSF10 (M664T)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely benign
Select item 721049	NM_178822.5(IGSF10):c.1869A>G (p.Lys623=)	IGSF10	Single nucleotide variant (synonymous variant)	IGSF10-related disorder +1 more	GLikely benign
Select item 719868	NM_178822.5(IGSF10):c.1720G>A (p.Glu574Lys)	IGSF10 (E574K)	Single nucleotide variant (missense variant)	IGSF10-related disorder +1 more	GBenign
Select item 1536883	NM_178822.5(IGSF10):c.1711C>T (p.Pro571Ser)	IGSF10 (P571S)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 3043628	NM_178822.5(IGSF10):c.1671T>C (p.Asp557=)	IGSF10	Single nucleotide variant (synonymous variant)	IGSF10-related disorder	GLikely benign
Select item 2040719	NM_178822.5(IGSF10):c.1382C>T (p.Pro461Leu)	IGSF10 (P461L)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 2060894	NM_178822.5(IGSF10):c.1372A>G (p.Ile458Val)	IGSF10 (I458V)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 1604276	NM_178822.5(IGSF10):c.1347G>A (p.Gln449=)	IGSF10	Single nucleotide variant (synonymous variant)	IGSF10-related disorder +1 more	GBenign
Select item 726242	NM_178822.5(IGSF10):c.875G>A (p.Ser292Asn)	IGSF10 (S292N)	Single nucleotide variant (missense variant)	IGSF10-related disorder +2 more	GLikely benign
Select item 1662337	NM_178822.5(IGSF10):c.526T>C (p.Leu176=)	IGSF10	Single nucleotide variant (synonymous variant)	IGSF10-related disorder +1 more	GBenign
Select item 1616146	NM_178822.5(IGSF10):c.481G>A (p.Glu161Lys)	IGSF10 (E161K)	Single nucleotide variant (missense variant)	IGSF10-related disorder +1 more	GBenign
Select item 1632872	NM_178822.5(IGSF10):c.448T>G (p.Tyr150Asp)	IGSF10 (Y150D)	Single nucleotide variant (missense variant)	IGSF10-related disorder +1 more	GBenign
Select item 789723	NM_178822.5(IGSF10):c.396A>G (p.Thr132=)	IGSF10	Single nucleotide variant (synonymous variant)	IGSF10-related disorder +1 more	GBenign
Select item 785069	NM_178822.5(IGSF10):c.371C>T (p.Thr124Ile)	IGSF10 (T124I)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 736348	NM_178822.5(IGSF10):c.353G>A (p.Arg118Gln)	IGSF10 (R118Q)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely benign
Select item 1598559	NM_178822.5(IGSF10):c.345T>C (p.Asn115=)	IGSF10	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 740303	NM_178822.5(IGSF10):c.325-3T>C	IGSF10	Single nucleotide variant (intron variant)	IGSF10-related disorder +1 more	GLikely benign
Select item 1567277	NM_178822.5(IGSF10):c.108T>C (p.Tyr36=)	IGSF10	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign

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Items: 77