ClinVar for Gene (Select 259215) - ClinVar

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Links from Gene

Items: 29

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3246239	NC_000006.11:g.(?_31620520)_(31937492_?)del	ABHD16A, APOM +28 more	Deletion	not provided	GUncertain significance
Select item 3246158	NC_000006.11:g.(?_31631971)_(31895135_?)del	ABHD16A, C2 +23 more	Deletion	not provided	GPathogenic
Select item 3121625	NM_001003693.3(LY6G6F):c.809C>T (p.Ser270Leu)	LY6G6F, LY6G6F-LY6G6D (S270L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3121624	NM_001003693.3(LY6G6F):c.787G>T (p.Gly263Trp)	LY6G6F, LY6G6F-LY6G6D (G263W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3121623	NM_001003693.3(LY6G6F):c.709C>G (p.Leu237Val)	LY6G6F, LY6G6F-LY6G6D (L237V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3121622	NM_001003693.3(LY6G6F):c.118A>G (p.Thr40Ala)	LY6G6F, LY6G6F-LY6G6D (T40A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2599021	NM_001003693.3(LY6G6F):c.416C>A (p.Ser139Tyr)	LY6G6F, LY6G6F-LY6G6D (S139Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2590333	NM_001003693.3(LY6G6F):c.133G>A (p.Glu45Lys)	LY6G6F, LY6G6F-LY6G6D (E45K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2521361	NM_001003693.3(LY6G6F):c.848A>G (p.Asn283Ser)	LY6G6F, LY6G6F-LY6G6D (N283S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2517061	NM_001003693.3(LY6G6F):c.275G>C (p.Trp92Ser)	LY6G6F, LY6G6F-LY6G6D (W92S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2514913	NM_001003693.3(LY6G6F):c.398C>T (p.Ala133Val)	LY6G6F, LY6G6F-LY6G6D (A133V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2481654	NM_001003693.3(LY6G6F):c.226A>C (p.Lys76Gln)	LY6G6F, LY6G6F-LY6G6D (K76Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2473304	NM_001003693.3(LY6G6F):c.313T>G (p.Trp105Gly)	LY6G6F, LY6G6F-LY6G6D (W105G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2455889	NM_001003693.3(LY6G6F):c.497T>G (p.Val166Gly)	LY6G6F, LY6G6F-LY6G6D (V166G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2427350	NC_000006.11:g.(?_30695893)_(36953949_?)dup	ABHD16A, AGER +172 more	Duplication	Proteasome-associated autoinflammatory syndrome 1	GUncertain significance
Select item 2424220	NC_000006.11:g.(?_30695893)_(31937492_?)dup	ABHD16A, AIF1 +63 more	Duplication	not provided	GUncertain significance
Select item 2343241	NM_001003693.3(LY6G6F):c.862C>T (p.Arg288Cys)	LY6G6F, LY6G6F-LY6G6D (R288C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2272256	NM_001003693.3(LY6G6F):c.112C>T (p.Pro38Ser)	LY6G6F, LY6G6F-LY6G6D (P38S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2262214	NM_001003693.3(LY6G6F):c.505C>T (p.Arg169Cys)	LY6G6F, LY6G6F-LY6G6D (R169C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2255214	NM_001003693.3(LY6G6F):c.515C>T (p.Ser172Phe)	LY6G6F, LY6G6F-LY6G6D (S172F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2228855	NM_001003693.3(LY6G6F):c.850A>T (p.Ile284Phe)	LY6G6F, LY6G6F-LY6G6D (I284F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1527232	GRCh37/hg19 6p21.33(chr6:31384577-31902308)	ABHD16A, AIF1 +40 more	Copy number gain	not specified	GUncertain significance
Select item 974733	NC_000006.11:g.28005012_31683185del	ABCF1, ABHD16A +106 more	Deletion	Megacolon	GLikely pathogenic
Select item 814807	GRCh37/hg19 6p21.33-21.31(chr6:31036397-34088832)x3	ABHD16A, AGER +117 more	Copy number gain	not provided	GLikely pathogenic
Select item 780983	NM_001003693.3(LY6G6F):c.101C>A (p.Pro34Gln)	LY6G6F, LY6G6F-LY6G6D (P34Q)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 625706	GRCh37/hg19 6p22.1-q14.1(chr6:29455465-81447367)	ERVH-3, ETV7 +427 more	Copy number gain	not provided	GPathogenic
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
Select item 155430	GRCh38/hg38 6p25.3-12.3(chr6:156974-46789291)x3	ILRUN-AS1, IP6K3 +2582 more	Copy number gain	See cases	GPathogenic

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Links from Gene

Items: 29