SP8[gene] - ClinVar

Search results

Items: 98

	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	GUncertain significance
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)	not provided	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	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)	not specified	GUncertain significance
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	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)	not provided	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 3345516	NM_182700.6(SP8):c.139G>T (p.Gly47Cys)	SP8 (G29C +1 more)	Single nucleotide variant (missense variant)	SP8-related disorder	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

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Items: 98