18695[HGNC] - ClinVar

Search results

Items: 95

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 153413	GRCh38/hg38 8p23.3-q24.3(chr8:208048-145070385)x3	LOC126860438, LOC126860439 +3663 more	Copy number gain	See cases	GPathogenic
Select item 154791	GRCh38/hg38 8p23.3-q24.3(chr8:226452-145068712)x3	AARD, ABRA +3663 more	Copy number gain	See cases	GPathogenic
Select item 59738	GRCh38/hg38 8p23.3-q24.3(chr8:241530-145054634)x3	AARD, ABRA +3661 more	Copy number gain	See cases	GPathogenic
Select item 57496	GRCh38/hg38 8p23.3-q24.3(chr8:241530-145049449)x3	LOC105379224, LOC105379230 +3657 more	Copy number gain	See cases	GPathogenic
Select item 149660	GRCh38/hg38 8p23.3-q24.3(chr8:241605-145054781)x3	AARD, ABRA +3661 more	Copy number gain	See cases	GPathogenic
Select item 153737	GRCh38/hg38 8p21.3-q24.3(chr8:21291522-145070385)x3	LOC129999966, LOC129999967 +3111 more	Copy number gain	See cases	GPathogenic
Select item 150770	GRCh38/hg38 8p12-q12.1(chr8:36580103-59618998)x3	ADAM18, ADAM2 +543 more	Copy number gain	See cases	GPathogenic
Select item 144238	GRCh38/hg38 8q11.1-13.2(chr8:46031334-69303787)x3	ADHFE1, ALKAL1 +491 more	Copy number gain	See cases	GPathogenic
Select item 150723	GRCh38/hg38 8q11.1-24.3(chr8:46031340-139285494)x3	LOC126860489, LOC126860490 +1963 more	Copy number gain	See cases	GPathogenic
Select item 153587	GRCh38/hg38 8q11.21-11.23(chr8:47338394-52753188)x3	ALKAL1, CEBPD +90 more	Copy number gain	See cases	GUncertain significance
Select item 154575	GRCh38/hg38 8q11.21-12.1(chr8:49471778-57825470)x1	ALKAL1, ATP6V1H +175 more	Copy number loss	See cases	GPathogenic
Select item 3170613	NM_001352837.2(ST18):c.3134T>G (p.Ile1045Ser)	ST18 (I1045S +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2231790	NM_001352837.2(ST18):c.2984A>G (p.Asp995Gly)	ST18 (D642G +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2611903	NM_001352837.2(ST18):c.2963C>T (p.Ala988Val)	ST18 (A635V +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2470726	NM_001352837.2(ST18):c.2896G>C (p.Glu966Gln)	ST18 (E620Q +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 725979	NM_001352837.2(ST18):c.2834C>A (p.Ala945Glu)	ST18 (A592E +5 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2243960	NM_001352837.2(ST18):c.2663G>A (p.Arg888Gln)	ST18 (R853Q +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2540303	NM_001352837.2(ST18):c.2632G>A (p.Gly878Ser)	ST18 (G849S +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3322930	NM_001352837.2(ST18):c.2602C>T (p.His868Tyr)	ST18 (H522Y +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3170612	NM_001352837.2(ST18):c.2586C>G (p.Asn862Lys)	ST18 (N509K +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3322931	NM_001352837.2(ST18):c.2521C>T (p.Pro841Ser)	ST18 (P806S +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2249562	NM_001352837.2(ST18):c.2519G>A (p.Cys840Tyr)	ST18 (C494Y +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2602055	NM_001352837.2(ST18):c.2416A>G (p.Lys806Glu)	ST18 (K806E +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2369801	NM_001352837.2(ST18):c.2381G>A (p.Arg794His)	ST18 (R448H +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2544805	NM_001352837.2(ST18):c.2314G>A (p.Gly772Ser)	ST18 (G772S +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2223575	NM_001352837.2(ST18):c.2218G>A (p.Ala740Thr)	ST18 (A394T +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2511948	NM_001352837.2(ST18):c.2138A>T (p.His713Leu)	ST18 (H367L +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2268269	NM_001352837.2(ST18):c.2108C>A (p.Ala703Asp)	ST18 (A674D +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3322929	NM_001352837.2(ST18):c.2087A>G (p.Glu696Gly)	ST18 (E661G +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2537666	NM_001352837.2(ST18):c.2029G>A (p.Gly677Arg)	ST18 (G642R +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2356969	NM_001352837.2(ST18):c.1970A>G (p.Tyr657Cys)	ST18 (Y628C +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2274287	NM_001352837.2(ST18):c.1969T>C (p.Tyr657His)	ST18 (Y628H +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2319637	NM_001352837.2(ST18):c.1952T>C (p.Leu651Pro)	ST18 (L622P +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 790737	NM_001352837.2(ST18):c.1949T>C (p.Ile650Thr)	ST18 (I650T +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 2302493	NM_001352837.2(ST18):c.1939A>G (p.Thr647Ala)	ST18 (T612A +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2396349	NM_001352837.2(ST18):c.1873G>A (p.Asp625Asn)	ST18 (D625N +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3322928	NM_001352837.2(ST18):c.1794T>A (p.Ser598Arg)	ST18 (S245R +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2325487	NM_001352837.2(ST18):c.1774C>T (p.Leu592Phe)	ST18 (L328F +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2375936	NM_001352837.2(ST18):c.1772T>A (p.Ile591Asn)	ST18 (I238N +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3170609	NM_001352837.2(ST18):c.1747A>C (p.Thr583Pro)	ST18 (T230P +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2372365	NM_001352837.2(ST18):c.1690G>A (p.Gly564Ser)	ST18 (G529S +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2392675	NM_001352837.2(ST18):c.1669C>T (p.Arg557Cys)	ST18 (R204C +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2346449	NM_001352837.2(ST18):c.1609A>G (p.Asn537Asp)	ST18 (N273D +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2229052	NM_001352837.2(ST18):c.1606C>T (p.Pro536Ser)	ST18 (P272S +4 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3170607	NM_001352837.2(ST18):c.1567G>A (p.Gly523Arg)	ST18 (G259R +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2532833	NM_001352837.2(ST18):c.1552A>G (p.Ile518Val)	ST18 (I254V +4 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3170606	NM_001352837.2(ST18):c.1549C>G (p.Leu517Val)	ST18 (L253V +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2274476	NM_001352837.2(ST18):c.1537G>A (p.Gly513Ser)	ST18 (G160S +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2363080	NM_001352837.2(ST18):c.1514C>T (p.Ala505Val)	ST18 (A470V +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3170605	NM_001352837.2(ST18):c.1507G>A (p.Asp503Asn)	ST18 (D474N +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2322771	NM_001352837.2(ST18):c.1465A>G (p.Thr489Ala)	ST18 (T225A +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2622666	NM_001352837.2(ST18):c.1430A>G (p.Asn477Ser)	ST18 (N213S +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2323227	NM_001352837.2(ST18):c.1339T>C (p.Ser447Pro)	ST18 (S183P +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2351713	NM_001352837.2(ST18):c.1241C>T (p.Thr414Met)	ST18 (T379M +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3170604	NM_001352837.2(ST18):c.1190G>A (p.Arg397Gln)	ST18 (R133Q +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2474384	NM_001352837.2(ST18):c.1151C>T (p.Pro384Leu)	ST18 (P120L +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2458638	NM_001352837.2(ST18):c.986G>T (p.Arg329Met)	ST18 (R294M +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3170618	NM_001352837.2(ST18):c.877G>T (p.Gly293Cys)	ST18 (G293C +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 782114	NM_001352837.2(ST18):c.846T>C (p.Asp282=)	ST18	Single nucleotide variant (synonymous variant +2 more)	not provided	GBenign
Select item 2600061	NM_001352837.2(ST18):c.737G>T (p.Cys246Phe)	ST18 (C246F +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2336323	NM_001352837.2(ST18):c.595G>A (p.Ala199Thr)	ST18 (A164T +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2554816	NM_001352837.2(ST18):c.536T>G (p.Ile179Ser)	ST18 (I179S +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3322932	NM_001352837.2(ST18):c.506T>C (p.Leu169Pro)	ST18 (L134P +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3170615	NM_001352837.2(ST18):c.480G>C (p.Glu160Asp)	ST18 (E125D +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2401933	NM_001352837.2(ST18):c.465G>C (p.Gln155His)	ST18 (Q120H +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3170614	NM_001352837.2(ST18):c.433G>A (p.Val145Ile)	ST18 (V145I +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GLikely benign
Select item 2346254	NM_001352837.2(ST18):c.419T>C (p.Val140Ala)	ST18 (V140A +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GLikely benign
Select item 2488550	NM_001352837.2(ST18):c.365A>T (p.Tyr122Phe)	ST18 (Y122F +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2341581	NM_001352837.2(ST18):c.362G>C (p.Cys121Ser)	ST18 (C121S +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2618521	NM_001352837.2(ST18):c.300G>T (p.Met100Ile)	ST18 (M65I +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2227622	NM_001352837.2(ST18):c.220C>T (p.Arg74Cys)	ST18 (R39C +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3170610	NM_001352837.2(ST18):c.203C>G (p.Ala68Gly)	ST18 (A68G +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2238794	NM_001352837.2(ST18):c.109G>A (p.Ala37Thr)	ST18 (A2T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2368990	NM_001352837.2(ST18):c.107T>C (p.Met36Thr)	ST18 (M36T +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3322927	NM_001352837.2(ST18):c.81G>C (p.Glu27Asp)	ST18 (E27D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3170617	NM_001352837.2(ST18):c.58C>A (p.Pro20Thr)	ST18 (P20T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3170616	NM_001352837.2(ST18):c.54G>C (p.Glu18Asp)	ST18 (E18D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 148374	GRCh38/hg38 8q11.23(chr8:52294744-53104010)x3	ALKAL1, LOC108281129 +17 more	Copy number gain	See cases	GLikely benign
Select item 150753	GRCh38/hg38 8q11.23(chr8:52387273-52944183)x3	ALKAL1, LOC108281129 +13 more	Copy number gain	See cases	GLikely benign
Select item 150998	GRCh38/hg38 8q11.23(chr8:52387348-52986011)x3	ALKAL1, LOC108281129 +13 more	Copy number gain	See cases	GUncertain significance
Select item 3063025	GRCh37/hg19 8p21.2-q21.3(chr8:27024288-89410121)x3	PREX2, PRKDC +240 more	Copy number gain	not specified	GPathogenic
Select item 3063013	GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771)x3	AARD, ABRA +665 more	Copy number gain	not specified	GPathogenic
Select item 1703544	GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771)	AARD, ABRA +665 more	Copy number gain	Polydactyly	GPathogenic
Select item 979232	GRCh37/hg19 8q11.23(chr8:52605905-54913501)x3	ALKAL1, ATP6V1H +8 more	Copy number gain	not provided	GUncertain significance
Select item 688961	GRCh37/hg19 8q11.23(chr8:53261856-53549167)x3	ALKAL1, RB1CC1 +1 more	Copy number gain	not provided	GUncertain significance
Select item 688699	GRCh37/hg19 8q11.23(chr8:53311515-53535713)x3	ALKAL1, RB1CC1 +1 more	Copy number gain	not provided	GUncertain significance
Select item 687787	GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771)x3	BAALC, CNOT7 +665 more	Copy number gain	not provided	GPathogenic
Select item 687493	GRCh37/hg19 8p12-q24.3(chr8:31936551-146295771)x3	HSF1, HTRA4 +474 more	Copy number gain	not provided	GPathogenic
Select item 685558	GRCh37/hg19 8p11.22-q12.3(chr8:39555657-64049089)x3	IDO1, IDO2 +78 more	Copy number gain	not provided	GPathogenic
Select item 563544	GRCh37/hg19 8q11.1-11.23(chr8:46863521-55218838)x3	SNTG1, SPIDR +20 more	Copy number gain	not provided	GUncertain significance
Select item 443619	GRCh37/hg19 8p23.1-q24.3(chr8:12490999-146295771)x3	AARD, ABRA +593 more	Copy number gain	See cases	GPathogenic
Select item 442201	GRCh37/hg19 8p23.3-q24.3(chr8:158049-146295771)x3	AARD, ABRA +665 more	Copy number gain	See cases	GPathogenic
Select item 442200	GRCh37/hg19 8p23.3-q24.3(chr8:158049-146295771)	FGF20, FGFR1 +665 more	Copy number gain	See cases	GPathogenic
Select item 394884	GRCh37/hg19 8p23.3-q24.3(chr8:158991-146280828)x3	SCRT1, SCX +665 more	Copy number gain	See cases	GPathogenic
Select item 393993	GRCh37/hg19 8p21.2-q12.1(chr8:24772064-24813176)x3	ADAM18, ADAM2 +133 more	Copy number gain	See cases	GUncertain significance

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Items: 95