22222[HGNC] - ClinVar

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Items: 86

	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 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 154993	GRCh38/hg38 7p22.3-15.2(chr7:1698124-27207295)x3	ABCB5, ACTB +769 more	Copy number gain	See cases	GPathogenic
Select item 155196	GRCh38/hg38 7p22.3(chr7:2031462-2653470)x3	BRAT1, CHST12 +63 more	Copy number gain	See cases	GLikely benign
Select item 2210349	NM_025250.3(TTYH3):c.20C>G (p.Ala7Gly)	TTYH3 (A7G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2227798	NM_025250.3(TTYH3):c.201G>T (p.Trp67Cys)	TTYH3 (W67C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2362808	NM_025250.3(TTYH3):c.211C>G (p.Arg71Gly)	TTYH3 (R71G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2312647	NM_025250.3(TTYH3):c.274A>G (p.Ile92Val)	TTYH3 (I92V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2264400	NM_025250.3(TTYH3):c.299G>C (p.Gly100Ala)	TTYH3 (G100A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3184694	NM_025250.3(TTYH3):c.349A>G (p.Arg117Gly)	TTYH3 (R117G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3184695	NM_025250.3(TTYH3):c.359A>G (p.Tyr120Cys)	TTYH3 (Y120C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3184696	NM_025250.3(TTYH3):c.374C>G (p.Ala125Gly)	TTYH3 (A125G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3330177	NM_025250.3(TTYH3):c.391G>C (p.Gly131Arg)	TTYH3 (G131R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2595908	NM_025250.3(TTYH3):c.409T>C (p.Trp137Arg)	TTYH3 (W137R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2531930	NM_025250.3(TTYH3):c.466C>T (p.Arg156Trp)	TTYH3 (R156W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2227550	NM_025250.3(TTYH3):c.466C>G (p.Arg156Gly)	TTYH3 (R156G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3330178	NM_025250.3(TTYH3):c.502G>A (p.Val168Ile)	TTYH3 (V168I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2525907	NM_025250.3(TTYH3):c.575C>T (p.Ala192Val)	TTYH3 (A192V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3184697	NM_025250.3(TTYH3):c.766G>A (p.Ala256Thr)	TTYH3 (A256T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3330179	NM_025250.3(TTYH3):c.793G>T (p.Val265Leu)	TTYH3 (V265L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3184698	NM_025250.3(TTYH3):c.844G>T (p.Val282Leu)	TTYH3 (V282L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2303721	NM_025250.3(TTYH3):c.847G>A (p.Glu283Lys)	TTYH3 (E283K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2303722	NM_025250.3(TTYH3):c.867T>A (p.Ser289Arg)	TTYH3 (S289R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2557846	NM_025250.3(TTYH3):c.889C>G (p.Leu297Val)	TTYH3 (L297V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2486577	NM_025250.3(TTYH3):c.904C>T (p.Arg302Cys)	TTYH3 (R302C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2269245	NM_025250.3(TTYH3):c.904C>G (p.Arg302Gly)	TTYH3 (R302G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2355190	NM_025250.3(TTYH3):c.905G>A (p.Arg302His)	TTYH3 (R302H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3184700	NM_025250.3(TTYH3):c.910G>A (p.Ala304Thr)	TTYH3 (A304T)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3184691	NM_025250.3(TTYH3):c.1034G>A (p.Arg345His)	TTYH3 (R345H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3330176	NM_025250.3(TTYH3):c.1045G>A (p.Val349Met)	TTYH3 (V349M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2491083	NM_025250.3(TTYH3):c.1140C>G (p.Phe380Leu)	TTYH3 (F380L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3184692	NM_025250.3(TTYH3):c.1198C>T (p.Leu400Phe)	TTYH3 (L400F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2368600	NM_025250.3(TTYH3):c.1220G>C (p.Cys407Ser)	TTYH3 (C407S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2237353	NM_025250.3(TTYH3):c.1229C>T (p.Pro410Leu)	TTYH3 (P410L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2399177	NM_025250.3(TTYH3):c.1242G>T (p.Gln414His)	TTYH3 (Q414H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2362187	NM_025250.3(TTYH3):c.1267G>A (p.Gly423Arg)	TTYH3 (G423R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2620810	NM_025250.3(TTYH3):c.1282G>A (p.Ala428Thr)	TTYH3 (A428T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2569653	NM_025250.3(TTYH3):c.1301C>T (p.Ala434Val)	TTYH3 (A434V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3184693	NM_025250.3(TTYH3):c.1318C>T (p.Arg440Cys)	TTYH3 (R440C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2351593	NM_025250.3(TTYH3):c.1396G>A (p.Val466Ile)	TTYH3 (V466I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2490316	NM_025250.3(TTYH3):c.1402A>C (p.Asn468His)	TTYH3 (N468H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2320690	NM_025250.3(TTYH3):c.1480C>T (p.Arg494Cys)	TTYH3 (R494C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3245808	NC_000007.13:g.(?_2559496)_(2998140_?)del	AMZ1, BRAT1 +5 more	Deletion	Severe combined immunodeficiency due to CARD11 deficiency +1 more	GPathogenic
Select item 3062980	GRCh37/hg19 7p22.3-22.2(chr7:2163435-2987198)x3	AMZ1, BRAT1 +11 more	Copy number gain	not specified	GUncertain significance
Select item 3062963	GRCh37/hg19 7p22.3-22.2(chr7:2088540-3127784)x3	AMZ1, BRAT1 +11 more	Copy number gain	not specified	GUncertain significance
Select item 2684477	GRCh37/hg19 7p22.3-22.2(chr7:2409035-2850679)x3	AMZ1, BRAT1 +6 more	Copy number gain	not provided	GUncertain significance
Select item 2684476	GRCh37/hg19 7p22.3-22.2(chr7:2380155-2885274)x3	AMZ1, BRAT1 +6 more	Copy number gain	not provided	GUncertain significance
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 2427036	NC_000007.13:g.(?_2577703)_(2972240_?)dup	AMZ1, BRAT1 +4 more	Duplication	Severe combined immunodeficiency due to CARD11 deficiency +1 more	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 1527332	GRCh37/hg19 7p22.3(chr7:2319788-2700303)	BRAT1, CHST12 +5 more	Copy number gain	not specified	GUncertain significance
Select item 814916	GRCh37/hg19 7p22.3(chr7:2592664-2679857)x1	IQCE, TTYH3 +1 more	Copy number loss	not provided	GUncertain significance
Select item 814914	GRCh37/hg19 7p22.3-21.3(chr7:1648373-10627513)x3	ACTB, AIMP2 +54 more	Copy number gain	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 686871	GRCh37/hg19 7p22.3-22.2(chr7:2592664-2972798)x3	AMZ1, BRAT1 +4 more	Copy number gain	not provided	GUncertain significance
Select item 563342	GRCh37/hg19 7p22.3(chr7:2363275-2707822)x3	CHST12, IQCE +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 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 442580	GRCh37/hg19 7p22.3-22.2(chr7:2408769-2987197)x3	AMZ1, BRAT1 +7 more	Copy number gain	See cases	GUncertain significance
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 394695	GRCh37/hg19 7p22.3-22.2(chr7:2623826-3772851)x3	AMZ1, CARD11 +4 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: 86