19196[HGNC] - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

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 148758	GRCh38/hg38 7p22.3-15.3(chr7:45130-25221165)x3	RAC1, RADIL +823 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 147466	GRCh38/hg38 7p22.1-15.2(chr7:5682209-27230311)x3	ABCB5, AGMO +560 more	Copy number gain	See cases	GPathogenic
Select item 154641	GRCh38/hg38 7p21.3-15.2(chr7:10610069-25760560)x1	LOC129998072, LOC129998073 +331 more	Copy number loss	See cases	GPathogenic
Select item 148859	GRCh38/hg38 7p21.2-15.3(chr7:15533812-24851432)x1	ABCB5, AGMO +248 more	Copy number loss	See cases	GPathogenic
Select item 59679	GRCh38/hg38 7p21.2-15.2(chr7:16234212-26167278)x3	ABCB5, AGR2 +287 more	Copy number gain	See cases	GPathogenic
Select item 58535	GRCh38/hg38 7p21.1-15.3(chr7:18505390-21417733)x1	ABCB5, FERD3L +63 more	Copy number loss	See cases	GPathogenic
Select item 147684	GRCh38/hg38 7p21.1-15.3(chr7:19145712-22193713)x1	ABCB5, CDCA7L +76 more	Copy number loss	See cases	GPathogenic
Select item 144929	GRCh38/hg38 7p21.1-15.2(chr7:20210912-27849400)x1	LOC111365192, LOC111413014 +281 more	Copy number loss	See cases	GPathogenic
Select item 147609	GRCh38/hg38 7p21.1-14.3(chr7:20561456-32005143)x1	ABCB5, ADCYAP1R1 +387 more	Copy number loss	See cases	GPathogenic
Select item 57473	GRCh38/hg38 7p21.1-15.3(chr7:20733453-20954082)x1	ABCB5, LINC01162 +7 more	Copy number loss	See cases	GUncertain significance
Select item 2343362	NM_182700.6(SP8):c.1510C>T (p.Arg504Cys)	SP8 (R486C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2242970	NM_182700.6(SP8):c.1509C>A (p.His503Gln)	SP8 (H485Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3167959	NM_182700.6(SP8):c.1493C>G (p.Pro498Arg)	SP8 (P480R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3167958	NM_182700.6(SP8):c.1492C>T (p.Pro498Ser)	SP8 (P480S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3167957	NM_182700.6(SP8):c.1492C>A (p.Pro498Thr)	SP8 (P498T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3042795	NM_182700.6(SP8):c.1485G>A (p.Leu495=)	SP8	Single nucleotide variant (synonymous variant)	SP8-related disorder	GLikely benign
Select item 2483937	NM_182700.6(SP8):c.1474T>C (p.Ser492Pro)	SP8 (S492P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3167956	NM_182700.6(SP8):c.1460G>A (p.Ser487Asn)	SP8 (S469N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2534635	NM_182700.6(SP8):c.1450G>A (p.Ala484Thr)	SP8 (A466T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2272378	NM_182700.6(SP8):c.1419G>T (p.Lys473Asn)	SP8 (K455N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2609338	NM_182700.6(SP8):c.1312G>C (p.Val438Leu)	SP8 (V438L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3048085	NM_182700.6(SP8):c.1296G>A (p.Lys432=)	SP8	Single nucleotide variant (synonymous variant)	SP8-related disorder	GLikely benign
Select item 3043995	NM_182700.6(SP8):c.1254C>T (p.Ser418=)	SP8	Single nucleotide variant (synonymous variant)	SP8-related disorder	GBenign
Select item 2390461	NM_182700.6(SP8):c.1225C>G (p.Leu409Val)	SP8 (L391V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3167955	NM_182700.6(SP8):c.1025G>A (p.Arg342His)	SP8 (R342H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3167954	NM_182700.6(SP8):c.1009C>G (p.Pro337Ala)	SP8 (P337A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2408943	NM_182700.6(SP8):c.991G>A (p.Ala331Thr)	SP8 (A313T +1 more)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 2621390	NM_182700.6(SP8):c.980C>G (p.Ala327Gly)	SP8 (A327G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2359106	NM_182700.6(SP8):c.979G>A (p.Ala327Thr)	SP8 (A309T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3054534	NM_182700.6(SP8):c.909A>G (p.Pro303=)	SP8	Single nucleotide variant (synonymous variant)	SP8-related disorder	GLikely benign
Select item 3167965	NM_182700.6(SP8):c.898G>C (p.Gly300Arg)	SP8 (G282R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2324434	NM_182700.6(SP8):c.850G>A (p.Gly284Ser)	SP8 (G266S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2478977	NM_182700.6(SP8):c.805T>C (p.Tyr269His)	SP8 (Y251H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 709118	NM_182700.6(SP8):c.798C>T (p.Leu266=)	SP8	Single nucleotide variant (synonymous variant)	SP8-related disorder +1 more	GBenign
Select item 1390888	NM_182700.6(SP8):c.771dup (p.Leu258fs)	SP8 (L240fs +1 more)	Duplication (frameshift variant)	not provided	GUncertain significance
Select item 2534636	NM_182700.6(SP8):c.727A>G (p.Ser243Gly)	SP8 (S225G +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3167964	NM_182700.6(SP8):c.692T>C (p.Val231Ala)	SP8 (V231A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2489477	NM_182700.6(SP8):c.618G>C (p.Trp206Cys)	SP8 (W188C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3167963	NM_182700.6(SP8):c.614C>T (p.Ser205Leu)	SP8 (S205L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2344332	NM_182700.6(SP8):c.566G>C (p.Gly189Ala)	SP8 (G189A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3033321	NM_182700.6(SP8):c.510G>T (p.Ser170=)	SP8	Single nucleotide variant (synonymous variant)	SP8-related disorder	GBenign
Select item 3047108	NM_182700.6(SP8):c.475_495del (p.Gly159_Gly165del)	SP8	Deletion (inframe deletion)	SP8-related disorder	GLikely benign
Select item 3056693	NM_182700.6(SP8):c.480G>T (p.Gly160=)	SP8	Single nucleotide variant (synonymous variant)	SP8-related disorder	GLikely benign
Select item 3041753	NM_182700.6(SP8):c.480G>C (p.Gly160=)	SP8	Single nucleotide variant (synonymous variant)	SP8-related disorder	GLikely benign
Select item 3042037	NM_182700.6(SP8):c.453T>C (p.Val151=)	SP8	Single nucleotide variant (synonymous variant)	SP8-related disorder	GLikely benign
Select item 3167962	NM_182700.6(SP8):c.451G>C (p.Val151Leu)	SP8 (V133L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3038098	NM_182700.6(SP8):c.417C>G (p.Phe139Leu)	SP8 (F121L +1 more)	Single nucleotide variant (missense variant)	SP8-related disorder +1 more	GConflicting classifications of pathogenicity
Select item 3041967	NM_182700.6(SP8):c.393A>C (p.Ala131=)	SP8	Single nucleotide variant (synonymous variant)	SP8-related disorder	GLikely benign
Select item 2657336	NM_182700.6(SP8):c.375CGC[7] (p.Ala134_Ser135insAla)	SP8	Microsatellite (inframe_insertion)	not provided +1 more	GLikely benign
Select item 3321719	NM_182700.6(SP8):c.385G>C (p.Ala129Pro)	SP8 (A129P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3050029	NM_182700.6(SP8):c.372A>C (p.Ala124=)	SP8	Single nucleotide variant (synonymous variant)	SP8-related disorder	GLikely benign
Select item 2618439	NM_182700.6(SP8):c.335G>T (p.Gly112Val)	SP8 (G112V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3167961	NM_182700.6(SP8):c.316A>G (p.Ser106Gly)	SP8 (S88G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3042647	NM_182700.6(SP8):c.294G>A (p.Ala98=)	SP8	Single nucleotide variant (synonymous variant)	SP8-related disorder	GLikely benign
Select item 3167960	NM_182700.6(SP8):c.292G>C (p.Ala98Pro)	SP8 (A80P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3045932	NM_182700.6(SP8):c.291C>T (p.Ala97=)	SP8	Single nucleotide variant (synonymous variant)	SP8-related disorder	GLikely benign
Select item 3041945	NM_182700.6(SP8):c.288T>C (p.Ala96=)	SP8	Single nucleotide variant (synonymous variant)	SP8-related disorder	GLikely benign
Select item 3037997	NM_182700.6(SP8):c.288T>A (p.Ala96=)	SP8	Single nucleotide variant (synonymous variant)	SP8-related disorder	GLikely benign
Select item 2657337	NM_182700.6(SP8):c.288T>G (p.Ala96=)	SP8	Single nucleotide variant (synonymous variant)	SP8-related disorder +1 more	GLikely benign
Select item 2657338	NM_182700.6(SP8):c.285G>T (p.Ala95=)	SP8	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2657339	NM_182700.6(SP8):c.282C>G (p.Ala94=)	SP8	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3038233	NM_182700.6(SP8):c.279A>T (p.Ala93=)	SP8	Single nucleotide variant (synonymous variant)	SP8-related disorder	GLikely benign
Select item 2657340	NM_182700.6(SP8):c.279A>C (p.Ala93=)	SP8	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3042421	NM_182700.6(SP8):c.276A>C (p.Ala92=)	SP8	Single nucleotide variant (synonymous variant)	SP8-related disorder	GLikely benign
Select item 3038122	NM_182700.6(SP8):c.276A>T (p.Ala92=)	SP8	Single nucleotide variant (synonymous variant)	SP8-related disorder	GLikely benign
Select item 3042119	NM_182700.6(SP8):c.267G>A (p.Ala89=)	SP8	Single nucleotide variant (synonymous variant)	SP8-related disorder	GLikely benign
Select item 3041751	NM_182700.6(SP8):c.261T>C (p.Ala87=)	SP8	Single nucleotide variant (synonymous variant)	SP8-related disorder	GLikely benign
Select item 3039746	NM_182700.6(SP8):c.228G>T (p.Gly76=)	SP8	Single nucleotide variant (synonymous variant)	SP8-related disorder	GBenign
Select item 3034616	NM_182700.6(SP8):c.223T>A (p.Ser75Thr)	SP8 (S57T +1 more)	Single nucleotide variant (missense variant)	SP8-related disorder	GBenign
Select item 2542464	NM_182700.6(SP8):c.173C>T (p.Ser58Phe)	SP8 (S58F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2516036	NM_182700.6(SP8):c.140G>T (p.Gly47Val)	SP8 (G29V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2403187	NM_182700.6(SP8):c.100C>G (p.Pro34Ala)	SP8 (P34A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3061737	NM_182700.6(SP8):c.96G>A (p.Pro32=)	SP8	Single nucleotide variant (synonymous variant)	SP8-related disorder	GLikely benign
Select item 3062983	GRCh37/hg19 7p21.1-14.3(chr7:17736012-30663423)x1	ABCB5, CBX3 +75 more	Copy number loss	not specified	GPathogenic
Select item 3062961	GRCh37/hg19 7p21.3-15.2(chr7:13107394-27514163)x1	ABCB5, AGMO +71 more	Copy number loss	not specified	GPathogenic
Select item 2685237	GRCh37/hg19 7p21.1-15.3(chr7:18603745-21437047)x1	ABCB5, FERD3L +7 more	Copy number loss	not provided	GPathogenic
Select item 1809224	GRCh37/hg19 7p21.1-15.3(chr7:20765631-21279909)x3	ABCB5, SP8	Copy number gain	not provided	GUncertain significance
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 1703560	Single allele	CACNA2D1, CADPS2 +896 more	Complex	Ring chromosome 7	GPathogenic
Select item 1527336	GRCh37/hg19 7p21.3-14.2(chr7:10745750-35305167)	ABCB5, ADCYAP1R1 +117 more	Copy number gain	not specified	GLikely pathogenic
Select item 1527335	GRCh37/hg19 7p21.3-15.3(chr7:9358316-20982082)	ABCB5, AGMO +29 more	Copy number loss	not specified	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 563419	GRCh37/hg19 7p21.2-15.3(chr7:14544155-21719929)x3	AGR3, TSPAN13 +23 more	Copy number gain	not provided	GPathogenic
Select item 563408	GRCh37/hg19 7p21.1-15.3(chr7:19173971-21399377)x3	SP8, ITGB8 +5 more	Copy number gain	not provided	GUncertain significance
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 441541	GRCh37/hg19 7p21.3-12.1(chr7:11048840-52863626)x3	RP9, SCIN +196 more	Copy number gain	See cases	GPathogenic
Select item 402244	TMEM106B-BRAF fusion	AASS, ABCA13 +678 more	Deletion	Pleomorphic xanthoastrocytoma	GPathogenic
Select item 395204	GRCh37/hg19 7p21.3-14.2(chr7:11562624-36395416)x3	ABCB5, ADCYAP1R1 +119 more	Copy number gain	See cases	GPathogenic

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Search results

Items: 97