13963[HGNC] - ClinVar

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Items: 27

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155430	GRCh38/hg38 6p25.3-12.3(chr6:156974-46789291)x3	ILRUN-AS1, IP6K3 +2582 more	Copy number gain	See cases	GPathogenic
Select item 150044	GRCh38/hg38 6p25.2-21.33(chr6:3224310-30657190)x3	ABCF1, ABT1 +1340 more	Copy number gain	See cases	GPathogenic
Select item 153490	GRCh38/hg38 6p22.1(chr6:28763187-29769828)x3	GABBR1, HCG14 +61 more	Copy number gain	See cases	GUncertain significance
Select item 2298068	NM_030959.3(OR12D3):c.878A>T (p.Asn293Ile)	OR12D3 (N293I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2516140	NM_030959.3(OR12D3):c.743G>A (p.Cys248Tyr)	OR12D3 (C248Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2465106	NM_030959.3(OR12D3):c.695T>C (p.Ile232Thr)	OR12D3 (I232T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2611695	NM_030959.3(OR12D3):c.641T>C (p.Leu214Pro)	OR12D3 (L214P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3302495	NM_030959.3(OR12D3):c.569C>A (p.Thr190Lys)	OR12D3 (T190K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2393578	NM_030959.3(OR12D3):c.542C>A (p.Pro181Gln)	OR12D3 (P181Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2377345	NM_030959.3(OR12D3):c.542C>T (p.Pro181Leu)	OR12D3 (P181L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3204744	NM_030959.3(OR12D3):c.460G>A (p.Ala154Thr)	OR12D3 (A154T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2311329	NM_030959.3(OR12D3):c.458A>G (p.Tyr153Cys)	OR12D3 (Y153C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2493664	NM_030959.3(OR12D3):c.422T>A (p.Leu141Gln)	OR12D3 (L141Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2375866	NM_030959.3(OR12D3):c.415T>C (p.Cys139Arg)	OR12D3 (C139R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3204743	NM_030959.3(OR12D3):c.412G>T (p.Val138Leu)	OR12D3 (V138L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2209752	NM_030959.3(OR12D3):c.402G>A (p.Met134Ile)	OR12D3 (M134I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2339110	NM_030959.3(OR12D3):c.284G>A (p.Cys95Tyr)	OR12D3 (C95Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2570365	NM_030959.3(OR12D3):c.259C>T (p.Arg87Cys)	OR12D3 (R87C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2622316	NM_030959.3(OR12D3):c.185G>A (p.Gly62Glu)	OR12D3 (G62E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2370406	NM_030959.3(OR12D3):c.169A>G (p.Met57Val)	OR12D3 (M57V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3302496	NM_030959.3(OR12D3):c.104T>C (p.Ile35Thr)	OR12D3 (I35T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2388539	NM_030959.3(OR12D3):c.5A>C (p.Glu2Ala)	OR12D3 (E2A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1807671	GRCh37/hg19 6p22.1(chr6:29162783-30236331)x3	GABBR1, HCG17 +23 more	Copy number gain	not provided	GUncertain significance
Select item 1527231	GRCh37/hg19 6p22.1(chr6:28735761-29585573)	GABBR1, MAS1L +16 more	Copy number loss	not specified	GUncertain significance
Select item 974733	NC_000006.11:g.28005012_31683185del	ABCF1, ABHD16A +106 more	Deletion	Megacolon	GLikely pathogenic
Select item 443497	GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)	AARS2, ABCC10 +1028 more	Copy number gain	See cases	GPathogenic
Select item 443496	GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)x3	RING1, RIOK1 +1028 more	Copy number gain	See cases	GPathogenic

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Items: 27