ClinVar for Gene (Select 8509) - ClinVar

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Links from Gene

Items: 64

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2684602	GRCh37/hg19 10q11.21-24.2(chr10:42709645-100834951)x3	RRP12, RTKN2 +332 more	Copy number gain	not provided	GPathogenic
Select item 2614630	NM_003635.4(NDST2):c.865C>T (p.His289Tyr)	NDST2, NDST2-ZSWIM8-AS1 (H289Y)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2614481	NM_003635.4(NDST2):c.2284C>T (p.Arg762Cys)	NDST2, NDST2-ZSWIM8-AS1 (R762C)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2607033	NM_003635.4(NDST2):c.1265C>T (p.Thr422Met)	NDST2, NDST2-ZSWIM8-AS1 (T422M)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2605382	NM_003635.4(NDST2):c.245G>A (p.Arg82Gln)	NDST2, NDST2-ZSWIM8-AS1 (R82Q)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2594769	NM_003635.4(NDST2):c.2477G>T (p.Arg826Leu)	NDST2, NDST2-ZSWIM8-AS1 (R826L +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2593958	NM_003635.4(NDST2):c.476G>A (p.Arg159Gln)	NDST2, NDST2-ZSWIM8-AS1 (R159Q)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2593592	NM_003635.4(NDST2):c.172G>A (p.Gly58Ser)	NDST2, NDST2-ZSWIM8-AS1 (G58S)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 2593423	NM_003635.4(NDST2):c.2414G>A (p.Arg805Gln)	NDST2, NDST2-ZSWIM8-AS1 (R805Q)	Single nucleotide variant (non-coding transcript variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2574696	GRCh37/hg19 10p14-q26.3(chr10:11138692-135427143)	MTG1, NPS +679 more	Copy number gain	Distal trisomy 10q	GPathogenic
Select item 2574686	GRCh37/hg19 10p13-q26.3(chr10:12829206-135427143)	A1CF, ABCC2 +670 more	Copy number loss	Distal 10q deletion syndrome	GPathogenic
Select item 2552897	NM_003635.4(NDST2):c.1162C>G (p.His388Asp)	NDST2, NDST2-ZSWIM8-AS1 (H388D)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2548042	NM_003635.4(NDST2):c.1505G>A (p.Arg502His)	NDST2, NDST2-ZSWIM8-AS1 (R502H)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2537891	NM_003635.4(NDST2):c.1247T>A (p.Leu416Gln)	NDST2, NDST2-ZSWIM8-AS1 (L416Q)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2519938	NM_003635.4(NDST2):c.1625T>G (p.Phe542Cys)	NDST2, NDST2-ZSWIM8-AS1 (F542C)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2514327	NM_003635.4(NDST2):c.1012T>G (p.Leu338Val)	NDST2, NDST2-ZSWIM8-AS1 (L338V)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2513686	NM_003635.4(NDST2):c.2033C>A (p.Thr678Asn)	NDST2, NDST2-ZSWIM8-AS1 (T678N)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2510171	NM_003635.4(NDST2):c.2419C>T (p.Leu807Phe)	NDST2, NDST2-ZSWIM8-AS1 (L807F)	Single nucleotide variant (non-coding transcript variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2508808	NM_003635.4(NDST2):c.1424A>G (p.Asn475Ser)	NDST2, NDST2-ZSWIM8-AS1 (N475S)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2495900	NM_003635.4(NDST2):c.2362A>C (p.Met788Leu)	NDST2, NDST2-ZSWIM8-AS1 (M788L)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2490694	NM_003635.4(NDST2):c.905G>A (p.Gly302Asp)	NDST2, NDST2-ZSWIM8-AS1 (G302D)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2483241	NM_003635.4(NDST2):c.187C>A (p.Pro63Thr)	NDST2, NDST2-ZSWIM8-AS1 (P63T)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2481791	NM_003635.4(NDST2):c.2168T>C (p.Val723Ala)	NDST2, NDST2-ZSWIM8-AS1 (V723A)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2471600	NM_003635.4(NDST2):c.2620C>T (p.Arg874Trp)	NDST2, NDST2-ZSWIM8-AS1 (R874W)	Single nucleotide variant (non-coding transcript variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2460546	NM_003635.4(NDST2):c.35G>A (p.Arg12Gln)	NDST2, NDST2-ZSWIM8-AS1 (R12Q)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2403923	NM_003635.4(NDST2):c.1666C>T (p.Arg556Cys)	NDST2, NDST2-ZSWIM8-AS1 (R556C)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2400039	NM_003635.4(NDST2):c.1359G>T (p.Gln453His)	NDST2, NDST2-ZSWIM8-AS1 (Q453H)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2394610	NM_003635.4(NDST2):c.2647G>A (p.Gly883Ser)	NDST2, NDST2-ZSWIM8-AS1 (G883S)	Single nucleotide variant (3 prime UTR variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2390714	NM_003635.4(NDST2):c.775C>T (p.Arg259Trp)	NDST2, NDST2-ZSWIM8-AS1 (R259W)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2377811	NM_003635.4(NDST2):c.2531G>A (p.Arg844His)	NDST2, NDST2-ZSWIM8-AS1 (R844H)	Single nucleotide variant (3 prime UTR variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2368293	NM_003635.4(NDST2):c.1607G>A (p.Arg536Gln)	NDST2, NDST2-ZSWIM8-AS1 (R536Q)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2364575	NM_003635.4(NDST2):c.592C>T (p.Arg198Trp)	NDST2, NDST2-ZSWIM8-AS1 (R198W)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2361266	NM_003635.4(NDST2):c.1882G>A (p.Ala628Thr)	NDST2, NDST2-ZSWIM8-AS1 (A628T)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2360053	NM_003635.4(NDST2):c.776G>A (p.Arg259Gln)	NDST2, NDST2-ZSWIM8-AS1 (R259Q)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2355680	NM_003635.4(NDST2):c.1474A>G (p.Ile492Val)	NDST2, NDST2-ZSWIM8-AS1 (I492V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2355612	NM_003635.4(NDST2):c.593G>A (p.Arg198Gln)	NDST2-ZSWIM8-AS1, NDST2 (R198Q)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2354482	NM_003635.4(NDST2):c.2104C>T (p.Leu702Phe)	NDST2, NDST2-ZSWIM8-AS1 (L702F)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2349991	NM_003635.4(NDST2):c.1146G>T (p.Glu382Asp)	NDST2, NDST2-ZSWIM8-AS1 (E382D)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2344272	NM_003635.4(NDST2):c.781C>T (p.Arg261Trp)	NDST2, NDST2-ZSWIM8-AS1 (R261W)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2341425	NM_003635.4(NDST2):c.1124T>C (p.Met375Thr)	NDST2, NDST2-ZSWIM8-AS1 (M375T)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2321156	NM_003635.4(NDST2):c.19G>A (p.Val7Met)	NDST2, NDST2-ZSWIM8-AS1 (V7M)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2294163	NM_003635.4(NDST2):c.778G>A (p.Ala260Thr)	NDST2, NDST2-ZSWIM8-AS1 (A260T)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2254186	NM_003635.4(NDST2):c.2179T>C (p.Tyr727His)	NDST2, NDST2-ZSWIM8-AS1 (Y727H)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2253414	NM_003635.4(NDST2):c.2580G>T (p.Lys860Asn)	NDST2, NDST2-ZSWIM8-AS1 (K860N)	Single nucleotide variant (3 prime UTR variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2248709	NM_003635.4(NDST2):c.715C>T (p.Pro239Ser)	NDST2, NDST2-ZSWIM8-AS1 (P239S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2243734	NM_003635.4(NDST2):c.2632C>A (p.Gln878Lys)	NDST2, NDST2-ZSWIM8-AS1 (Q878K)	Single nucleotide variant (3 prime UTR variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2213335	NM_003635.4(NDST2):c.647G>A (p.Arg216His)	NDST2, NDST2-ZSWIM8-AS1 (R216H)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2206230	NM_003635.4(NDST2):c.1016C>T (p.Thr339Ile)	NDST2, NDST2-ZSWIM8-AS1 (T339I)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1527589	GRCh37/hg19 10q21.3-22.3(chr10:68735254-78885714)	ADAMTS14, ADK +91 more	Copy number loss	not specified	GPathogenic
Select item 688655	GRCh37/hg19 10q22.2(chr10:75251395-75763287)x1	AGAP5, C10orf55 +12 more	Copy number loss	not provided	GUncertain significance
Select item 563800	GRCh37/hg19 10q21.3-23.32(chr10:69040366-93194993)x3	ACTA2, ADAMTS14 +168 more	Copy number gain	not provided	GPathogenic
Select item 523165	GRCh37/hg19 10q11.21-26.3(chr10:42347406-135534747)x1	COX15, CPEB3 +569 more	Copy number loss	Poly (ADP-Ribose) polymerase inhibitor response	Gdrug response
Select item 442888	GRCh37/hg19 10q22.2(chr10:75179409-76009153)x3	ADK, AGAP5 +15 more	Copy number gain	See cases	GUncertain significance
Select item 441987	GRCh37/hg19 10p15.3-q26.3(chr10:100027-135427143)	A1CF, ABCC2 +722 more	Copy number gain	See cases	GPathogenic
Select item 441986	GRCh37/hg19 10p15.3-q26.3(chr10:100027-135427143)x3	NFKB2, NHLRC2 +722 more	Copy number gain	See cases	GPathogenic
Select item 395153	GRCh37/hg19 10q22.2-22.3(chr10:75542067-79428995)x1	ADK, AP3M1 +16 more	Copy number loss	See cases	GPathogenic
Select item 393995	GRCh37/hg19 10p15.3-q26.3(chr10:93297-135378918)x3	A1CF, ANXA8L1 +723 more	Copy number gain	See cases	GPathogenic
Select item 221965	NM_003635.4(NDST2):c.199C>T (p.Arg67Trp)	NDST2, NDST2-ZSWIM8-AS1 (R67W)	Single nucleotide variant (missense variant +1 more)	Anophthalmia-microphthalmia syndrome	GLikely benign
Select item 221964	NM_003635.4(NDST2):c.25C>T (p.Arg9Cys)	NDST2, NDST2-ZSWIM8-AS1 (R9C)	Single nucleotide variant (missense variant +1 more)	Anophthalmia-microphthalmia syndrome	GLikely benign
Select item 148945	GRCh38/hg38 10q11.23-23.2(chr10:50729367-87147204)x3	LOC126860963, LOC126860964 +1008 more	Copy number gain	See cases	GPathogenic
Select item 147477	GRCh38/hg38 10q21.3-22.2(chr10:63402579-75296099)x1	ADAMTS14, ADK +514 more	Copy number loss	See cases	GPathogenic
Select item 146115	GRCh38/hg38 10q21.3-22.3(chr10:67196567-79422057)x3	ADAMTS14, ADK +580 more	Copy number gain	See cases	GPathogenic
Select item 58745	GRCh38/hg38 10q22.1-22.2(chr10:72720628-75612374)x1	LOC130004132, LOC130004133 +150 more	Copy number loss	See cases	GPathogenic
Select item 58726	GRCh38/hg38 10q21.1-22.2(chr10:58436466-74415216)x1	LOC129390190, LOC129390191 +610 more	Copy number loss	See cases	GPathogenic

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Links from Gene

Items: 64