ClinVar for Gene (Select 100507436) - ClinVar

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Links from Gene

Items: 30

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2656402	NM_001177519.3(MICA):c.904G>A (p.Val302Met)	MICA (V164M +2 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2656401	NM_001177519.3(MICA):c.595G>A (p.Val199Ile)	MICA (V102I +2 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2656400	NM_001177519.3(MICA):c.325+1G>A	MICA	Single nucleotide variant (splice donor variant)	not provided	GLikely benign
Select item 2568960	NM_001177519.3(MICA):c.80G>A (p.Ser27Asn)	MICA (S27N)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2521725	NM_001177519.3(MICA):c.862G>A (p.Gly288Arg)	MICA (G288R +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2479101	NM_001177519.3(MICA):c.797C>A (p.Thr266Asn)	MICA (T128N +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2478205	NM_001177519.3(MICA):c.144G>C (p.Glu48Asp)	MICA (E48D)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2463048	NM_001177519.3(MICA):c.400T>C (p.Tyr134His)	MICA (Y37H +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2427350	NC_000006.11:g.(?_30695893)_(36953949_?)dup	KIFC1, LEMD2 +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 2375512	NM_001177519.3(MICA):c.44C>T (p.Pro15Leu)	MICA (P15L)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2344566	NM_001177519.3(MICA):c.596T>C (p.Val199Ala)	MICA (V61A +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2327136	NM_001177519.3(MICA):c.488T>C (p.Met163Thr)	MICA (M66T +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2322279	NM_001177519.3(MICA):c.761G>T (p.Gly254Val)	MICA (G157V +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2270848	NM_001177519.3(MICA):c.85C>T (p.Arg29Cys)	MICA (R29C)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	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 625706	GRCh37/hg19 6p22.1-q14.1(chr6:29455465-81447367)	LRRC1, LRRC73 +427 more	Copy number gain	not provided	GPathogenic
Select item 443497	GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)	AIRN, BNIP5 +1028 more	Copy number gain	See cases	GPathogenic
Select item 443496	GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)x3	PDE10A, PDE7B +1028 more	Copy number gain	See cases	GPathogenic
Select item 403088	NM_001177519.3(MICA):c.948_949insCTGCTGCTGCT (p.Ala317fs)	MICA (A179fs +2 more)	Insertion (frameshift variant)	not specified	GBenign
Select item 403087	NM_001177519.3(MICA):c.947_948dup (p.Ala317fs)	MICA (A317fs +2 more)	Insertion (frameshift variant)	not specified	GBenign
Select item 403086	NM_001177519.3(MICA):c.953_956del (p.Gly318fs)	MICA (G221fs +2 more)	Microsatellite (no sequence alteration +1 more)	not specified	GBenign
Select item 403085	NM_001177519.3(MICA):c.821G>A (p.Arg274Gln)	MICA (R274Q +2 more)	Single nucleotide variant (no sequence alteration +1 more)	not specified	GBenign
Select item 403084	NM_001177519.3(MICA):c.707T>C (p.Ile236Thr)	MICA (I236T +2 more)	Single nucleotide variant (no sequence alteration +1 more)	not specified	GBenign
Select item 221364	chr6:31237124-31378388 complex variant	HLA-B, HLA-C +1 more	Complex	Breast ductal adenocarcinoma	GUncertain significance
Select item 218532	NM_001177519.3(MICA):c.730G>C (p.Val244Leu)	MICA (V244L +2 more)	Single nucleotide variant (missense variant)	not specified	GBenign
Select item 157007	NR_002812.3(HCG26):n.-83887_14635dup	HCG26, HCP5 +5 more	Duplication	Preeclampsia	Gnot provided
Select item 155430	GRCh38/hg38 6p25.3-12.3(chr6:156974-46789291)x3	CYP39A1, DAAM2 +2577 more	Copy number gain	See cases	GPathogenic
Select item 147104	GRCh38/hg38 6p21.33(chr6:31413982-31477904)x1	HCG26, HCP5 +3 more	Copy number loss	See cases	GBenign

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Links from Gene

Items: 30