ClinVar for Gene (Select 4277) - ClinVar

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Links from Gene

Items: 36

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3294796	NM_005931.5(MICB):c.392G>A (p.Arg131Gln)	MICB (R131Q +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3126292	NM_005931.5(MICB):c.813G>C (p.Arg271Ser)	MICB (R228S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3126291	NM_005931.5(MICB):c.718C>T (p.Arg240Cys)	MICB (R208C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3126290	NM_005931.5(MICB):c.65C>A (p.Ala22Asp)	MICB (A22D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3126289	NM_005931.5(MICB):c.595G>T (p.Val199Leu)	MICB (V167L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3126288	NM_005931.5(MICB):c.326G>A (p.Gly109Asp)	MICB (G77D +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3126287	NM_005931.5(MICB):c.250A>G (p.Thr84Ala)	MICB (T52A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3126286	NM_005931.5(MICB):c.173G>A (p.Arg58His)	MICB (R58H +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3126285	NM_005931.5(MICB):c.139G>A (p.Ala47Thr)	MICB (A15T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2619053	NM_005931.5(MICB):c.912G>C (p.Gln304His)	MICB (Q261H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2549361	NM_005931.5(MICB):c.536A>G (p.His179Arg)	MICB (H179R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2530874	NM_005931.5(MICB):c.826G>A (p.Glu276Lys)	MICB (E244K +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2462309	NM_005931.5(MICB):c.542G>A (p.Arg181His)	MICB (R138H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2460005	NM_005931.5(MICB):c.391C>T (p.Arg131Trp)	MICB (R131W +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
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 2408811	NM_005931.5(MICB):c.667G>A (p.Val223Met)	MICB (V223M +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2406351	NM_005931.5(MICB):c.259G>A (p.Glu87Lys)	MICB (E55K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2392961	NM_005931.5(MICB):c.11G>A (p.Gly4Asp)	MICB (G4D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2380728	NM_005931.5(MICB):c.449C>T (p.Ser150Leu)	MICB (S118L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2374911	NM_005931.5(MICB):c.493G>A (p.Val165Ile)	MICB (V133I +2 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2341684	NM_005931.5(MICB):c.1061T>C (p.Val354Ala)	MICB (V354A +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2337133	NM_005931.5(MICB):c.277G>A (p.Gly93Arg)	MICB (G61R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2271441	NM_005931.5(MICB):c.791A>G (p.Tyr264Cys)	MICB (Y232C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2255586	NM_005931.5(MICB):c.107C>T (p.Ser36Phe)	MICB (S36F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2223651	NM_005931.5(MICB):c.191G>A (p.Arg64His)	MICB (R32H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2209181	NM_005931.5(MICB):c.919C>T (p.Arg307Trp)	MICB (R264W +2 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
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 726697	NM_005931.5(MICB):c.66C>T (p.Ala22=)	MICB	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 713467	NM_005931.5(MICB):c.1134T>C (p.Gly378=)	MICB	Single nucleotide variant (synonymous 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: 36