10457[geneid] - ClinVar

Search results

Items: 100

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155519	GRCh38/hg38 7p22.3-15.2(chr7:43360-27196404)x3	PSMG3, PSMG3-AS1 +904 more	Copy number gain	See cases	GPathogenic
Select item 148758	GRCh38/hg38 7p22.3-15.3(chr7:45130-25221165)x3	LOC129997989, LOC129997990 +823 more	Copy number gain	See cases	GPathogenic
Select item 147357	GRCh38/hg38 7p22.3-15.2(chr7:54185-26827634)x3	LOC110120728, LOC110120749 +879 more	Copy number gain	See cases	GPathogenic
Select item 146075	GRCh38/hg38 7p22.3-q36.3(chr7:54185-159282390)x1	CCDC146, CCDC201 +4735 more	Copy number loss	See cases	GPathogenic
Select item 59678	GRCh38/hg38 7p22.3-14.2(chr7:54185-37089712)x3	ABCB5, ACTB +1148 more	Copy number gain	See cases	GPathogenic
Select item 57453	GRCh38/hg38 7p22.3-14.1(chr7:54185-41875885)x3	LOC126860013, LOC126860014 +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	LOC129997985, LOC129997986 +560 more	Copy number gain	See cases	GPathogenic
Select item 154641	GRCh38/hg38 7p21.3-15.2(chr7:10610069-25760560)x1	LOC123924901, LOC123924902 +331 more	Copy number loss	See cases	GPathogenic
Select item 148859	GRCh38/hg38 7p21.2-15.3(chr7:15533812-24851432)x1	LOC129998080, LOC129998081 +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 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 718620	NM_002510.3(GPNMB):c.33G>A (p.Leu11=)	GPNMB	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 3042316	NM_002510.3(GPNMB):c.49T>C (p.Leu17=)	GPNMB	Single nucleotide variant (synonymous variant)	GPNMB-related condition	GBenign
Select item 715719	NM_002510.3(GPNMB):c.53C>T (p.Pro18Leu)	GPNMB (P18L)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2297273	NM_002510.3(GPNMB):c.176A>C (p.Tyr59Ser)	GPNMB (Y59S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2248652	NM_002510.3(GPNMB):c.191G>A (p.Arg64Gln)	GPNMB (R64Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3067283	NM_002510.3(GPNMB):c.226G>T (p.Gly76Cys)	GPNMB (G76C)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2399241	NM_002510.3(GPNMB):c.257C>T (p.Ser86Leu)	GPNMB (S86L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 751924	NM_002510.3(GPNMB):c.267C>T (p.Leu89=)	GPNMB	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 746646	NM_002510.3(GPNMB):c.290C>T (p.Ala97Val)	GPNMB (A97V)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 503500	NM_002510.3(GPNMB):c.296del (p.Asn99fs)	GPNMB (N99fs)	Deletion (frameshift variant)	Amyloidosis, primary localized cutaneous, 3	GPathogenic
Select item 1324506	NM_002510.3(GPNMB):c.319_332del (p.Lys107fs)	GPNMB (K107fs)	Deletion (frameshift variant)	Amyloidosis, primary localized cutaneous, 3 +1 more	GPathogenic/Likely pathogenic
Select item 724397	NM_002510.3(GPNMB):c.339C>T (p.Asn113=)	GPNMB	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3059129	NM_002510.3(GPNMB):c.390G>A (p.Pro130=)	GPNMB	Single nucleotide variant (synonymous variant)	GPNMB-related condition	GBenign
Select item 733291	NM_002510.3(GPNMB):c.421G>T (p.Asp141Tyr)	GPNMB (D141Y)	Single nucleotide variant (missense variant)	GPNMB-related condition +1 more	GLikely benign
Select item 3055318	NM_002510.3(GPNMB):c.429C>T (p.Asp143=)	GPNMB	Single nucleotide variant (synonymous variant)	GPNMB-related condition	GBenign
Select item 2516619	NM_002510.3(GPNMB):c.430G>A (p.Gly144Arg)	GPNMB (G144R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2221385	NM_002510.3(GPNMB):c.469C>T (p.Pro157Ser)	GPNMB (P157S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2461816	NM_002510.3(GPNMB):c.526G>A (p.Val176Ile)	GPNMB (V176I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3068175	NM_002510.3(GPNMB):c.547T>G (p.Tyr183Asp)	GPNMB (Y183D)	Single nucleotide variant (missense variant)	Amyloidosis, primary localized cutaneous, 3	GUncertain significance
Select item 503497	NM_002510.3(GPNMB):c.565C>T (p.Arg189Ter)	GPNMB (R189*)	Single nucleotide variant (nonsense)	Amyloidosis, primary localized cutaneous, 3	GPathogenic
Select item 778296	NM_002510.3(GPNMB):c.591C>T (p.Asn197=)	GPNMB	Single nucleotide variant (synonymous variant)	GPNMB-related condition +1 more	GBenign
Select item 718718	NM_002510.3(GPNMB):c.591C>G (p.Asn197Lys)	GPNMB (N197K)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2218293	NM_002510.3(GPNMB):c.598A>G (p.Asn200Asp)	GPNMB (N200D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2287962	NM_002510.3(GPNMB):c.619C>T (p.Leu207Phe)	GPNMB (L207F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2320475	NM_002510.3(GPNMB):c.627A>T (p.Glu209Asp)	GPNMB (E209D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2476269	NM_002510.3(GPNMB):c.628G>A (p.Val210Met)	GPNMB (V210M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2465959	NM_002510.3(GPNMB):c.653G>C (p.Arg218Pro)	GPNMB (R218P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 503498	NM_002510.3(GPNMB):c.660T>G (p.Tyr220Ter)	GPNMB (Y220*)	Single nucleotide variant (nonsense)	Amyloidosis, primary localized cutaneous, 3	GPathogenic
Select item 2470515	NM_002510.3(GPNMB):c.686T>C (p.Val229Ala)	GPNMB (V229A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2629416	NM_002510.3(GPNMB):c.701-2A>C	GPNMB	Single nucleotide variant (splice acceptor variant)	GPNMB-related condition	GLikely pathogenic
Select item 503501	NM_002510.3(GPNMB):c.719_720del (p.Val240fs)	GPNMB (V240fs)	Microsatellite (frameshift variant)	Amyloidosis, primary localized cutaneous, 3	GPathogenic
Select item 2370999	NM_002510.3(GPNMB):c.743G>A (p.Arg248Gln)	GPNMB (R248Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2458356	NM_002510.3(GPNMB):c.755A>G (p.Asp252Gly)	GPNMB (D252G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2377958	NM_002510.3(GPNMB):c.778C>T (p.Pro260Ser)	GPNMB (P260S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 781033	NM_002510.3(GPNMB):c.810T>A (p.Pro270=)	GPNMB	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2516706	NM_002510.3(GPNMB):c.820C>G (p.Leu274Val)	GPNMB (L274V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 503502	NM_002510.3(GPNMB):c.877_880del (p.Val293fs)	GPNMB (V293fs)	Microsatellite (frameshift variant)	Amyloidosis, primary localized cutaneous, 3	GPathogenic
Select item 2350809	NM_002510.3(GPNMB):c.876T>G (p.Phe292Leu)	GPNMB (F292L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2492049	NM_002510.3(GPNMB):c.923C>A (p.Thr308Asn)	GPNMB (T308N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2067769	NM_002510.3(GPNMB):c.944_945del (p.Val315fs)	GPNMB (V315fs)	Microsatellite (frameshift variant)	not provided	GPathogenic
Select item 778297	NM_002510.3(GPNMB):c.971C>T (p.Pro324Leu)	GPNMB (P324L)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2262791	NM_002510.3(GPNMB):c.989C>A (p.Pro330His)	GPNMB (P330H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3051514	NM_002510.3(GPNMB):c.1018+10C>T	GPNMB	Single nucleotide variant (intron variant)	GPNMB-related condition	GLikely benign
Select item 503499	NM_002510.3(GPNMB):c.1056del (p.Pro353fs)	GPNMB (P353fs +1 more)	Deletion (frameshift variant)	Amyloidosis, primary localized cutaneous, 3	GPathogenic
Select item 2298338	NM_002510.3(GPNMB):c.1070G>T (p.Cys357Phe)	GPNMB (C369F +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3042286	NM_002510.3(GPNMB):c.1117+6G>C	GPNMB	Single nucleotide variant (intron variant)	GPNMB-related condition	GLikely benign
Select item 2577912	NM_002510.3(GPNMB):c.1118-2A>G	GPNMB	Single nucleotide variant (splice acceptor variant)	Amyloidosis, primary localized cutaneous, 3	GPathogenic
Select item 2232178	NM_002510.3(GPNMB):c.1193T>C (p.Ile398Thr)	GPNMB (I398T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 731706	NM_002510.3(GPNMB):c.1203C>T (p.Val401=)	GPNMB	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2387283	NM_002510.3(GPNMB):c.1204G>A (p.Val402Met)	GPNMB (V414M +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3053853	NM_002510.3(GPNMB):c.1221-5C>T	GPNMB	Single nucleotide variant (intron variant)	GPNMB-related condition	GLikely benign
Select item 2356358	NM_002510.3(GPNMB):c.1229C>T (p.Thr410Met)	GPNMB (T422M +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2530256	NM_002510.3(GPNMB):c.1231G>A (p.Glu411Lys)	GPNMB (E423K +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 716877	NM_002510.3(GPNMB):c.1299T>G (p.Asp433Glu)	GPNMB (D433E +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 983510	NM_002510.3(GPNMB):c.1330C>T (p.Arg444Ter)	GPNMB (R444* +1 more)	Single nucleotide variant (nonsense)	Amyloidosis, primary localized cutaneous, 3	GLikely pathogenic
Select item 2516047	NM_002510.3(GPNMB):c.1474G>A (p.Val492Ile)	GPNMB (V492I +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2351792	NM_002510.3(GPNMB):c.1489A>G (p.Ile497Val)	GPNMB (I509V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2404912	NM_002510.3(GPNMB):c.1507T>C (p.Ser503Pro)	GPNMB (S515P +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2374000	NM_002510.3(GPNMB):c.1508C>T (p.Ser503Phe)	GPNMB (S515F +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2608920	NM_002510.3(GPNMB):c.1561G>A (p.Gly521Arg)	GPNMB (G533R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2245499	NM_002510.3(GPNMB):c.1574G>C (p.Arg525Thr)	GPNMB (R525T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 781034	NM_002510.3(GPNMB):c.1578C>A (p.Ser526Arg)	GPNMB (S526R +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 714769	NM_002510.3(GPNMB):c.1585C>T (p.Leu529=)	GPNMB	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 2389386	NM_002510.3(GPNMB):c.1604G>A (p.Arg535His)	GPNMB (R535H +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2477183	NM_002510.3(GPNMB):c.1615G>A (p.Val539Met)	GPNMB (V539M +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 763501	NM_002510.3(GPNMB):c.1632C>T (p.Asn544=)	GPNMB	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 712644	NM_002510.3(GPNMB):c.1647G>A (p.Pro549=)	GPNMB	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 773209	NM_002510.3(GPNMB):c.1663G>T (p.Glu555Ter)	GPNMB (E567* +1 more)	Single nucleotide variant (nonsense)	not provided	GBenign/Likely 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 2684484	GRCh37/hg19 7p15.3(chr7:22362299-23695195)x3	GPNMB, CCDC126 +12 more	Copy number gain	not provided	GUncertain significance
Select item 1807992	GRCh37/hg19 7p15.3(chr7:22949862-23470342)x3	GPNMB, HYCC1 +5 more	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 1527341	GRCh37/hg19 7p15.3(chr7:22574536-23357770)	GPNMB, HYCC1 +8 more	Copy number loss	not specified	GUncertain significance
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 687427	GRCh37/hg19 7p22.3-q36.3(chr7:10365-159119707)x3	PRSS1, PRSS37 +896 more	Copy number gain	not provided	GPathogenic
Select item 599189	NC_000007.13:g.23236782_30690453del7453672	NFE2L3, NOD1 +53 more	Deletion	Silver Russell Syndrome-related disorder	GPathogenic
Select item 442834	GRCh37/hg19 7p22.3-q36.3(chr7:43361-159119707)x3	AASS, ABCA13 +896 more	Copy number gain	See cases	GPathogenic
Select item 442833	GRCh37/hg19 7p22.3-q36.3(chr7:43361-159119707)	KLHL7, KLHL7-DT +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	ABCA13, ABCB5 +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
Select item 253643	GRCh37/hg19 7p15.3-14.3(chr7:22935369-32621975)x1	ADCYAP1R1, AQP1 +68 more	Copy number loss	See cases	GPathogenic
Select item 242972	NC_000007.13:g.(20954043_21001537)_(114528369_114556605)inv	ARMC10, ASB4 +504 more	Inversion	Childhood apraxia of speech	GPathogenic

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Items: 100