28489[HGNC] - ClinVar

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Items: 53

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155448	GRCh38/hg38 1q21.2-25.2(chr1:149854269-180267197)x3	LOC129931453, LOC129931454 +1585 more	Copy number gain	See cases	GPathogenic
Select item 58109	GRCh38/hg38 1q23.1-25.1(chr1:157747246-176021247)x3	ADAMTS4, ADCY10 +775 more	Copy number gain	See cases	GPathogenic
Select item 57465	GRCh38/hg38 1q23.2-24.1(chr1:159479887-166895086)x1	ADAMTS4, ALDH9A1 +371 more	Copy number loss	See cases	GPathogenic
Select item 639872	NC_000001.10:g.(?_160786670)_(161332233_?)dup	ADAMTS4, APOA2 +63 more	Duplication	Gastrointestinal stromal tumor +1 more	GUncertain significance
Select item 57815	GRCh38/hg38 1q23.3(chr1:160866658-161315114)x3	ADAMTS4, APOA2 +58 more	Copy number gain	See cases	GUncertain significance
Select item 3288874	NM_152366.5(KLHDC9):c.16C>T (p.Pro6Ser)	KLHDC9, LOC129931749 (P6S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2538675	NM_152366.5(KLHDC9):c.56C>T (p.Pro19Leu)	KLHDC9, LOC129931749 (P19L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2523550	NM_152366.5(KLHDC9):c.86C>T (p.Ala29Val)	KLHDC9, LOC129931749 (A29V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3288876	NM_152366.5(KLHDC9):c.98G>A (p.Cys33Tyr)	KLHDC9, LOC129931749 (C33Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2488588	NM_152366.5(KLHDC9):c.139C>G (p.Leu47Val)	KLHDC9, LOC129931749 (L47V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2536472	NM_152366.5(KLHDC9):c.149G>A (p.Gly50Glu)	KLHDC9 (G50E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3288877	NM_152366.5(KLHDC9):c.157G>A (p.Glu53Lys)	KLHDC9 (E53K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3115438	NM_152366.5(KLHDC9):c.196G>C (p.Gly66Arg)	KLHDC9 (G66R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2335445	NM_152366.5(KLHDC9):c.223G>T (p.Gly75Cys)	KLHDC9, LOC129931750 (G75C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3115439	NM_152366.5(KLHDC9):c.232C>G (p.Pro78Ala)	KLHDC9, LOC129931750 (P78A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3115441	NM_152366.5(KLHDC9):c.233C>T (p.Pro78Leu)	KLHDC9, LOC129931750 (P78L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3115440	NM_152366.5(KLHDC9):c.233C>A (p.Pro78Gln)	KLHDC9, LOC129931750 (P78Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3288875	NM_152366.5(KLHDC9):c.235C>T (p.Arg79Cys)	KLHDC9, LOC129931750 (R79C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2375943	NM_152366.5(KLHDC9):c.236G>T (p.Arg79Leu)	KLHDC9, LOC129931750 (R79L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3115442	NM_152366.5(KLHDC9):c.238A>C (p.Ser80Arg)	KLHDC9, LOC129931750 (S80R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3115443	NM_152366.5(KLHDC9):c.250G>A (p.Ala84Thr)	KLHDC9 (A84T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2622511	NM_152366.5(KLHDC9):c.265G>C (p.Gly89Arg)	KLHDC9 (G89R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2225026	NM_152366.5(KLHDC9):c.368C>A (p.Thr123Asn)	KLHDC9 (T123N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3115444	NM_152366.5(KLHDC9):c.433C>G (p.Leu145Val)	KLHDC9 (L145V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3115445	NM_152366.5(KLHDC9):c.439G>A (p.Val147Met)	KLHDC9 (V147M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3115446	NM_152366.5(KLHDC9):c.484A>G (p.Ser162Gly)	KLHDC9 (S162G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2480532	NM_152366.5(KLHDC9):c.508C>T (p.Pro170Ser)	KLHDC9 (P170S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2624415	NM_152366.5(KLHDC9):c.562T>C (p.Ser188Pro)	KLHDC9 (S188P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3115447	NM_152366.5(KLHDC9):c.694C>T (p.Pro232Ser)	KLHDC9 (T238I +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2294627	NM_152366.5(KLHDC9):c.707C>T (p.Pro236Leu)	KLHDC9 (P236L)	Single nucleotide variant (synonymous variant +2 more)	not specified	GUncertain significance
Select item 3115448	NM_152366.5(KLHDC9):c.744T>C (p.Ser248=)	KLHDC9 (W255R)	Single nucleotide variant (missense variant +2 more)	not specified	GLikely benign
Select item 3115449	NM_152366.5(KLHDC9):c.801C>T (p.Val267=)	KLHDC9 (R274W)	Single nucleotide variant (missense variant +2 more)	not specified	GLikely benign
Select item 2558525	NM_152366.5(KLHDC9):c.920G>T (p.Cys307Phe)	KLHDC9 (C307F)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2398742	NM_152366.5(KLHDC9):c.929G>A (p.Arg310His)	KLHDC9 (R310H)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2544005	NM_152366.5(KLHDC9):c.940C>T (p.Arg314Cys)	KLHDC9 (R314C)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2526948	NM_152366.5(KLHDC9):c.952C>T (p.Arg318Cys)	KLHDC9 (R318C)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 3115450	NM_152366.5(KLHDC9):c.953G>A (p.Arg318His)	KLHDC9 (R318H)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2286937	NM_152366.5(KLHDC9):c.959G>A (p.Cys320Tyr)	KLHDC9 (C320Y)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 3115451	NM_152366.5(KLHDC9):c.992G>A (p.Gly331Asp)	KLHDC9 (G331D)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 3115452	NM_152366.5(KLHDC9):c.996T>G (p.Phe332Leu)	KLHDC9 (F332L)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2685732	GRCh37/hg19 1q23.1-23.3(chr1:158001058-162858285)x1	ACKR1, ADAMTS4 +107 more	Copy number loss	not provided	GLikely pathogenic
Select item 1809367	GRCh37/hg19 1q23.3(chr1:160778879-161190622)x3	ADAMTS4, ARHGAP30 +18 more	Copy number gain	not provided	GUncertain significance
Select item 1527326	GRCh37/hg19 1q23.2-24.1(chr1:160417296-166197042)	ADAMTS4, ALDH9A1 +62 more	Copy number loss	not specified	GPathogenic
Select item 1411942	NC_000001.10:g.(?_158581054)_(162750036_?)dup	LY9, MNDA +90 more	Duplication	Autoimmune interstitial lung disease-arthritis syndrome	GUncertain significance
Select item 1341040	GRCh37/hg19 1q23.3(chr1:160859558-161409185)x3	ADAMTS4, APOA2 +22 more	Copy number gain	not provided	GLikely pathogenic
Select item 1003645	NC_000001.10:g.(?_130980840)_(248900000_?)dup	FCGR3A, LCE3C +956 more	Duplication	Parathyroid carcinoma +2 more	GUncertain significance
Select item 830661	NC_000001.11:g.(?_160816880)_(161362518_?)dup	ADAMTS4, APOA2 +24 more	Duplication	Paragangliomas 3 +1 more	GUncertain significance
Select item 814133	GRCh37/hg19 1q23.3(chr1:160977795-161189147)x3	KLHDC9, PFDN2 +14 more	Copy number gain	not provided	GUncertain significance
Select item 688334	GRCh37/hg19 1q23.3(chr1:160744174-162583871)x3	ADAMTS4, APOA2 +42 more	Copy number gain	not provided	GUncertain significance
Select item 688082	GRCh37/hg19 1q23.1-24.2(chr1:157321299-167391423)x1	ACKR1, ADAMTS4 +132 more	Copy number loss	not provided	GPathogenic
Select item 625771	GRCh37/hg19 1q23.2-25.1(chr1:160369890-175796325)	ADCY10, ALDH9A1 +137 more	Copy number loss	not provided	GPathogenic
Select item 442387	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)	CD34, CD46 +2014 more	Copy number gain	See cases	GPathogenic
Select item 442386	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3	GPATCH2, GPATCH3 +2014 more	Copy number gain	See cases	GPathogenic

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Items: 53