"CHAMP1-related disorder"[Disease/phenotype] AND "PreventionGenetics, - ClinVar

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Items: 32

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3037367	NM_032436.4(CHAMP1):c.-11CAGA[1]	CHAMP1	Microsatellite (5 prime UTR variant)	CHAMP1-related disorder	GBenign
Select item 2362119	NM_032436.4(CHAMP1):c.38G>A (p.Arg13His)	CHAMP1 (R13H)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GLikely benign
Select item 3040701	NM_032436.4(CHAMP1):c.81A>G (p.Glu27=)	CHAMP1	Single nucleotide variant (synonymous variant)	CHAMP1-related disorder	GLikely benign
Select item 3039812	NM_032436.4(CHAMP1):c.315T>A (p.Pro105=)	CHAMP1	Single nucleotide variant (synonymous variant)	CHAMP1-related disorder	GLikely benign
Select item 2630845	NM_032436.4(CHAMP1):c.476C>T (p.Pro159Leu)	CHAMP1 (P159L)	Single nucleotide variant (missense variant)	CHAMP1-related disorder	GUncertain significance
Select item 728926	NM_032436.4(CHAMP1):c.516T>A (p.Pro172=)	CHAMP1	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 731051	NM_032436.4(CHAMP1):c.520_522del (p.Pro174del)	CHAMP1 (P174del)	Deletion (inframe_deletion)	not provided +1 more	GBenign/Likely benign
Select item 756072	NM_032436.4(CHAMP1):c.675C>A (p.Pro225=)	CHAMP1	Single nucleotide variant (synonymous variant)	CHAMP1-related disorder +1 more	GBenign
Select item 738221	NM_032436.4(CHAMP1):c.709T>C (p.Leu237=)	CHAMP1	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 445741	NM_032436.4(CHAMP1):c.755C>T (p.Ala252Val)	CHAMP1 (A252V)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely benign
Select item 2644021	NM_032436.4(CHAMP1):c.814C>T (p.Arg272Trp)	CHAMP1 (R272W)	Single nucleotide variant (missense variant)	CHAMP1-related disorder +1 more	GLikely benign
Select item 3060603	NM_032436.4(CHAMP1):c.819T>C (p.Thr273=)	CHAMP1	Single nucleotide variant (synonymous variant)	CHAMP1-related disorder	GBenign
Select item 3054749	NM_032436.4(CHAMP1):c.820A>G (p.Thr274Ala)	CHAMP1 (T274A)	Single nucleotide variant (missense variant)	CHAMP1-related disorder	GLikely benign
Select item 3059016	NM_032436.4(CHAMP1):c.876G>A (p.Pro292=)	CHAMP1	Single nucleotide variant (synonymous variant)	CHAMP1-related disorder	GBenign
Select item 714018	NM_032436.4(CHAMP1):c.887T>C (p.Val296Ala)	CHAMP1 (V296A)	Single nucleotide variant (missense variant)	CHAMP1-related disorder +1 more	GBenign
Select item 715527	NM_032436.4(CHAMP1):c.951T>C (p.Pro317=)	CHAMP1	Single nucleotide variant (synonymous variant)	CHAMP1-related disorder +2 more	GBenign
Select item 2628907	NM_032436.4(CHAMP1):c.1051A>G (p.Ile351Val)	CHAMP1 (I351V)	Single nucleotide variant (missense variant)	CHAMP1-related disorder	GUncertain significance
Select item 2634193	NM_032436.4(CHAMP1):c.1211_1213del (p.Leu404del)	CHAMP1 (L404del)	Deletion (inframe_deletion)	CHAMP1-related disorder	GUncertain significance
Select item 3040024	NM_032436.4(CHAMP1):c.1266C>T (p.Pro422=)	CHAMP1	Single nucleotide variant (synonymous variant)	CHAMP1-related disorder	GLikely benign
Select item 3046820	NM_032436.4(CHAMP1):c.1309C>G (p.Pro437Ala)	CHAMP1 (P437A)	Single nucleotide variant (missense variant)	CHAMP1-related disorder	GUncertain significance
Select item 3052946	NM_032436.4(CHAMP1):c.1382C>T (p.Ala461Val)	CHAMP1 (A461V)	Single nucleotide variant (missense variant)	CHAMP1-related disorder	GUncertain significance
Select item 1277386	NM_032436.4(CHAMP1):c.1614C>T (p.Ala538=)	CHAMP1	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 710366	NM_032436.4(CHAMP1):c.1664G>A (p.Arg555Gln)	CHAMP1 (R555Q)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely benign
Select item 2395110	NM_032436.4(CHAMP1):c.1679T>C (p.Phe560Ser)	CHAMP1 (F560S)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GLikely benign
Select item 2635584	NM_032436.4(CHAMP1):c.1777G>A (p.Asp593Asn)	CHAMP1 (D593N)	Single nucleotide variant (missense variant)	CHAMP1-related disorder	GUncertain significance
Select item 784276	NM_032436.4(CHAMP1):c.2013G>C (p.Met671Ile)	CHAMP1 (M671I)	Single nucleotide variant (missense variant)	CHAMP1-related disorder +1 more	GBenign
Select item 762446	NM_032436.4(CHAMP1):c.2025T>C (p.Ser675=)	CHAMP1	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 2636958	NM_032436.4(CHAMP1):c.2059G>A (p.Glu687Lys)	CHAMP1 (E687K)	Single nucleotide variant (missense variant)	CHAMP1-related disorder	GUncertain significance
Select item 3040445	NM_032436.4(CHAMP1):c.2070A>G (p.Glu690=)	CHAMP1	Single nucleotide variant (synonymous variant)	CHAMP1-related disorder	GLikely benign
Select item 1302799	NM_032436.4(CHAMP1):c.2082T>C (p.Ser694=)	CHAMP1	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 2629973	NM_032436.4(CHAMP1):c.2276C>T (p.Ala759Val)	CHAMP1 (A759V)	Single nucleotide variant (missense variant)	CHAMP1-related disorder	GUncertain significance
Select item 984847	NM_032436.4(CHAMP1):c.2279A>G (p.His760Arg)	CHAMP1 (H760R)	Single nucleotide variant (missense variant)	CHAMP1-related disorder	GUncertain significance

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Items: 32