202915[Gene ID] - ClinVar

Search results

Items: 97

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155519	GRCh38/hg38 7p22.3-15.2(chr7:43360-27196404)x3	LOC129998085, LOC129998086 +904 more	Copy number gain	See cases	GPathogenic
Select item 155108	GRCh38/hg38 7p22.3-22.2(chr7:45130-3406236)x3	ADAP1, AMZ1 +246 more	Copy number gain	See cases	GUncertain significance
Select item 148758	GRCh38/hg38 7p22.3-15.3(chr7:45130-25221165)x3	RAC1, RADIL +823 more	Copy number gain	See cases	GPathogenic
Select item 148450	GRCh38/hg38 7p22.3-21.3(chr7:45130-7252065)x3	ACTB, ADAP1 +439 more	Copy number gain	See cases	GPathogenic
Select item 59675	GRCh38/hg38 7p22.3-22.1(chr7:45130-6270185)x3	BRAT1, ACTB +381 more	Copy number gain	See cases	GPathogenic
Select item 58492	GRCh38/hg38 7p22.3-22.1(chr7:45130-5880375)x1	ACTB, ADAP1 +357 more	Copy number loss	See cases	GPathogenic
Select item 154928	GRCh38/hg38 7p22.3-22.2(chr7:54165-3258775)x1	LOC126859917, LOC126859918 +245 more	Copy number loss	See cases	GPathogenic
Select item 160967	GRCh38/hg38 7p22.3(chr7:54185-1843584)x1	ADAP1, C7orf50 +140 more	Copy number loss	See cases	GPathogenic
Select item 147625	GRCh38/hg38 7p22.3-22.2(chr7:54185-3324143)x1	ADAP1, AMZ1 +246 more	Copy number loss	See cases	GPathogenic
Select item 147563	GRCh38/hg38 7p22.3-22.1(chr7:54185-6638027)x3	ACTB, ADAP1 +418 more	Copy number gain	See cases	GPathogenic
Select item 147357	GRCh38/hg38 7p22.3-15.2(chr7:54185-26827634)x3	HYCC1, ICA1 +879 more	Copy number gain	See cases	GPathogenic
Select item 146075	GRCh38/hg38 7p22.3-q36.3(chr7:54185-159282390)x1	CUL1, CUX1 +4737 more	Copy number loss	See cases	GPathogenic
Select item 59678	GRCh38/hg38 7p22.3-14.2(chr7:54185-37089712)x3	LOC129998210, LOC129998211 +1148 more	Copy number gain	See cases	GPathogenic
Select item 57453	GRCh38/hg38 7p22.3-14.1(chr7:54185-41875885)x3	ABCB5, ACTB +1298 more	Copy number gain	See cases	GPathogenic
Select item 32434	GRCh38/hg38 7p22.3(chr7:54185-1843584)x1	ADAP1, C7orf50 +140 more	Copy number loss	See cases	GPathogenic
Select item 149269	GRCh38/hg38 7p22.3(chr7:689554-2031521)x3	ADAP1, C7orf50 +117 more	Copy number gain	See cases	GUncertain significance
Select item 147514	GRCh38/hg38 7p22.3(chr7:791215-1993065)x3	ADAP1, C7orf50 +105 more	Copy number gain	See cases	GUncertain significance
Select item 148752	GRCh38/hg38 7p22.3(chr7:1085248-2530644)x4	C7orf50, CHST12 +116 more	Copy number gain	See cases	GUncertain significance
Select item 147494	GRCh38/hg38 7p22.3(chr7:1330987-2530644)x1	CHST12, EIF3B +99 more	Copy number loss	See cases	GUncertain significance
Select item 2555763	NM_001097620.2(TMEM184A):c.1235A>G (p.Asp412Gly)	TMEM184A (D412G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2354348	NM_001097620.2(TMEM184A):c.1225C>T (p.Pro409Ser)	TMEM184A (P409S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2304127	NM_001097620.2(TMEM184A):c.1225C>G (p.Pro409Ala)	TMEM184A (P409A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2603208	NM_001097620.2(TMEM184A):c.1187G>A (p.Ser396Asn)	TMEM184A (S396N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2323057	NM_001097620.2(TMEM184A):c.1178C>T (p.Ser393Phe)	TMEM184A (S393F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 768127	NM_001097620.2(TMEM184A):c.1171GGC[3] (p.Gly392dup)	TMEM184A	Microsatellite (inframe_insertion)	not provided	GBenign
Select item 3179037	NM_001097620.2(TMEM184A):c.1120T>C (p.Tyr374His)	TMEM184A (Y374H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2604756	NM_001097620.2(TMEM184A):c.1108G>A (p.Ala370Thr)	TMEM184A (A370T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3179036	NM_001097620.2(TMEM184A):c.1105C>T (p.Pro369Ser)	TMEM184A (P369S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2607401	NM_001097620.2(TMEM184A):c.1044C>A (p.Ser348Arg)	TMEM184A (S348R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2481246	NM_001097620.2(TMEM184A):c.1021G>A (p.Ala341Thr)	TMEM184A (A341T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3179043	NM_001097620.2(TMEM184A):c.996G>C (p.Lys332Asn)	TMEM184A (K332N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2289651	NM_001097620.2(TMEM184A):c.988G>A (p.Ala330Thr)	TMEM184A (A330T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2382754	NM_001097620.2(TMEM184A):c.931G>A (p.Val311Met)	TMEM184A (V311M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3179042	NM_001097620.2(TMEM184A):c.922A>G (p.Ile308Val)	TMEM184A (I308V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3179041	NM_001097620.2(TMEM184A):c.907G>A (p.Gly303Ser)	TMEM184A (G303S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2454743	NM_001097620.2(TMEM184A):c.854C>T (p.Pro285Leu)	TMEM184A (P285L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 786889	NM_001097620.2(TMEM184A):c.804G>A (p.Ser268=)	TMEM184A	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3179040	NM_001097620.2(TMEM184A):c.779C>T (p.Thr260Ile)	TMEM184A (T260I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2225013	NM_001097620.2(TMEM184A):c.748C>T (p.Arg250Trp)	TMEM184A (R250W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2468509	NM_001097620.2(TMEM184A):c.727T>C (p.Phe243Leu)	TMEM184A (F243L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3326885	NM_001097620.2(TMEM184A):c.685G>T (p.Ala229Ser)	TMEM184A (A229S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2589317	NM_001097620.2(TMEM184A):c.655G>A (p.Gly219Ser)	TMEM184A (G219S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2289233	NM_001097620.2(TMEM184A):c.630C>A (p.His210Gln)	TMEM184A (H210Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 781021	NM_001097620.2(TMEM184A):c.582C>T (p.Pro194=)	TMEM184A	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3179039	NM_001097620.2(TMEM184A):c.547A>G (p.Lys183Glu)	TMEM184A (K183E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3179038	NM_001097620.2(TMEM184A):c.539G>A (p.Arg180His)	TMEM184A (R180H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 716077	NM_001097620.2(TMEM184A):c.528C>T (p.Ile176=)	TMEM184A	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2535146	NM_001097620.2(TMEM184A):c.479C>A (p.Ser160Tyr)	TMEM184A (S160Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2224274	NM_001097620.2(TMEM184A):c.416G>A (p.Cys139Tyr)	TMEM184A (C139Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2402334	NM_001097620.2(TMEM184A):c.361G>A (p.Asp121Asn)	TMEM184A (D121N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2326833	NM_001097620.2(TMEM184A):c.353T>A (p.Val118Asp)	TMEM184A (V118D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2232251	NM_001097620.2(TMEM184A):c.319A>G (p.Ser107Gly)	TMEM184A (S107G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2471578	NM_001097620.2(TMEM184A):c.274C>T (p.Arg92Cys)	TMEM184A (R92C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2478104	NM_001097620.2(TMEM184A):c.263G>A (p.Arg88His)	TMEM184A (R88H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3326886	NM_001097620.2(TMEM184A):c.256G>A (p.Glu86Lys)	TMEM184A (E86K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2276950	NM_001097620.2(TMEM184A):c.235C>T (p.Arg79Cys)	TMEM184A (R79C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2621026	NM_001097620.2(TMEM184A):c.202G>C (p.Val68Leu)	LOC121144498, TMEM184A (V68L)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2493694	NM_001097620.2(TMEM184A):c.155C>T (p.Ser52Phe)	LOC121144498, TMEM184A (S52F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 707944	NM_001097620.2(TMEM184A):c.116G>A (p.Gly39Glu)	LOC121144498, TMEM184A (G39E)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 3179035	NM_001097620.2(TMEM184A):c.104T>C (p.Met35Thr)	LOC121144498, TMEM184A (M35T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2342885	NM_001097620.2(TMEM184A):c.80C>T (p.Pro27Leu)	LOC121144498, TMEM184A (P27L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2600827	NM_001097620.2(TMEM184A):c.32C>T (p.Ala11Val)	LOC121144498, TMEM184A (A11V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2600826	NM_001097620.2(TMEM184A):c.29C>T (p.Thr10Ile)	LOC121144498, TMEM184A (T10I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2468956	NM_001097620.2(TMEM184A):c.28A>G (p.Thr10Ala)	LOC121144498, TMEM184A (T10A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3062959	GRCh37/hg19 7p22.3(chr7:43360-2020306)x1	ADAP1, C7orf50 +19 more	Copy number loss	not specified	GPathogenic
Select item 2684470	GRCh37/hg19 7p22.3-22.1(chr7:43361-5965440)x3	RNF216, SDK1 +48 more	Copy number gain	not provided	GPathogenic
Select item 2684469	GRCh37/hg19 7p22.3-21.3(chr7:43361-8890475)x3	PSMG3, RAC1 +73 more	Copy number gain	not provided	GPathogenic
Select item 1807649	GRCh37/hg19 7p22.3(chr7:1316239-1781553)x1	ELFN1, INTS1 +4 more	Copy number loss	not provided	GUncertain significance
Select item 1711132	GRCh37/hg19 7p22.3-21.3(chr7:43360-9649794)x3	MAD1L1, MAFK +73 more	Copy number gain	See cases	GPathogenic
Select item 1708459	GRCh37/hg19 7p22.3-q36.3(chr7:56604613-96692931)x1	AASS, ABCA13 +896 more	Copy number loss	See cases	GUncertain significance
Select item 1708194	GRCh37/hg19 7p22.3-21.1(chr7:43360-19485604)x3	ACTB, ADAP1 +98 more	Copy number gain	See cases	GPathogenic
Select item 1703560	Single allele	CACNA2D1, CADPS2 +896 more	Complex	Ring chromosome 7	GPathogenic
Select item 1341235	GRCh37/hg19 7p22.3(chr7:1330065-1821278)x3	ELFN1, INTS1 +4 more	Copy number gain	not provided	GUncertain significance
Select item 1340418	GRCh37/hg19 7p22.3(chr7:989697-2138529)x3	ADAP1, C7orf50 +13 more	Copy number gain	not provided	GUncertain significance
Select item 980820	GRCh37/hg19 7p22.3(chr7:967185-1781553)x3	ADAP1, C7orf50 +12 more	Copy number gain	not provided	GUncertain significance
Select item 980819	GRCh37/hg19 7p22.3(chr7:1063598-1614261)x3	C7orf50, GPER1 +8 more	Copy number gain	not provided	GUncertain significance
Select item 816483	GRCh37/hg19 7p22.3(chr7:44935-1750797)x1	TMEM184A, GET4 +18 more	Copy number loss	See cases	GPathogenic
Select item 814913	GRCh37/hg19 7p22.3(chr7:1108122-1812800)x3	ZFAND2A, C7orf50 +8 more	Copy number gain	not provided	GUncertain significance
Select item 814912	GRCh37/hg19 7p22.3(chr7:1065860-1812800)x3	GPR146, PSMG3 +9 more	Copy number gain	not provided	GUncertain significance
Select item 814911	GRCh37/hg19 7p22.3(chr7:43360-1648288)x1	INTS1, ZFAND2A +17 more	Copy number loss	not provided	GPathogenic
Select item 688582	GRCh37/hg19 7p22.3-22.2(chr7:36616-4298168)x1	ADAP1, AMZ1 +32 more	Copy number loss	not provided	GPathogenic
Select item 687427	GRCh37/hg19 7p22.3-q36.3(chr7:10365-159119707)x3	PRSS1, PRSS37 +896 more	Copy number gain	not provided	GPathogenic
Select item 687401	GRCh37/hg19 7p22.3-21.1(chr7:43376-19520619)x3	ACTB, ADAP1 +98 more	Copy number gain	not provided	GPathogenic
Select item 563355	GRCh37/hg19 7p22.3(chr7:1509465-1948518)x3	TMEM184A, PSMG3 +4 more	Copy number gain	not provided	GUncertain significance
Select item 443916	GRCh37/hg19 7p22.3-22.2(chr7:43360-3642604)x1	ADAP1, AMZ1 +32 more	Copy number loss	See cases	GPathogenic
Select item 443817	GRCh37/hg19 7p22.3(chr7:43360-2057743)x1	ADAP1, C7orf50 +19 more	Copy number loss	See cases	GLikely pathogenic
Select item 443071	GRCh37/hg19 7p22.3-21.3(chr7:43360-12098696)x3	ACTB, ADAP1 +76 more	Copy number gain	See cases	GPathogenic
Select item 443024	GRCh37/hg19 7p22.3-22.1(chr7:1201674-5175651)x1	AMZ1, AP5Z1 +26 more	Copy number loss	See cases	GPathogenic
Select item 442834	GRCh37/hg19 7p22.3-q36.3(chr7:43361-159119707)x3	AVL9, AZGP1 +896 more	Copy number gain	See cases	GPathogenic
Select item 442833	GRCh37/hg19 7p22.3-q36.3(chr7:43361-159119707)	MCM7, MDFIC +896 more	Copy number gain	See cases	GPathogenic
Select item 442824	GRCh37/hg19 7p22.3-14.3(chr7:704573-29257946)x3	ABCB5, ACTB +158 more	Copy number gain	See cases	GPathogenic
Select item 442624	GRCh37/hg19 7p22.3-15.3(chr7:43360-23674928)x3	ABCB5, ACTB +121 more	Copy number gain	See cases	GPathogenic
Select item 442503	GRCh37/hg19 7p22.3-21.3(chr7:43360-11567351)x3	DAGLB, DNAAF5 +76 more	Copy number gain	See cases	GPathogenic
Select item 442159	GRCh37/hg19 7p22.3-21.2(chr7:43360-14664158)x3	ACTB, ADAP1 +82 more	Copy number gain	See cases	GPathogenic
Select item 442117	GRCh37/hg19 7p22.3(chr7:1329779-1888014)x3	ELFN1, INTS1 +5 more	Copy number gain	See cases	GUncertain significance
Select item 393941	GRCh37/hg19 7p22.3-21.3(chr7:183556-12746636)x3	TNRC18, TTYH3 +80 more	Copy number gain	See cases	GPathogenic
Select item 253802	GRCh37/hg19 7p22.3-22.2(chr7:1004794-4063934)x4	CYP2W1, PSMG3 +25 more	Copy number gain	See cases	GUncertain significance

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Items: 97