ClinVar for Gene (Select 4063) - ClinVar

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Links from Gene

Items: 73

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3292366	NM_002348.4(LY9):c.1591C>A (p.Pro531Thr)	LY9 (P441T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3292365	NM_002348.4(LY9):c.1789G>T (p.Val597Phe)	LY9 (V597F +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3292363	NM_002348.4(LY9):c.632G>A (p.Arg211Gln)	LY9 (R211Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3292362	NM_002348.4(LY9):c.1721A>G (p.Asp574Gly)	LY9 (D560G +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3292361	NM_002348.4(LY9):c.682G>A (p.Val228Ile)	LY9 (V228I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3292360	NM_002348.4(LY9):c.1577G>C (p.Arg526Thr)	LY9 (R512T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3121645	NM_002348.4(LY9):c.877A>G (p.Arg293Gly)	LY9 (R293G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3121644	NM_002348.4(LY9):c.290C>A (p.Thr97Asn)	LY9 (T97N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3121643	NM_002348.4(LY9):c.282A>C (p.Glu94Asp)	LY9 (E94D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3121642	NM_002348.4(LY9):c.271C>T (p.Arg91Cys)	LY9 (R91C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3121641	NM_002348.4(LY9):c.1915C>G (p.Gln639Glu)	LY9 (Q625E +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3121640	NM_002348.4(LY9):c.1712C>G (p.Ala571Gly)	LY9 (A481G +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3121639	NM_002348.4(LY9):c.1403T>C (p.Val468Ala)	LY9 (V378A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3121638	NM_002348.4(LY9):c.1162G>A (p.Gly388Arg)	LY9 (G388R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3121637	NM_002348.4(LY9):c.114C>G (p.Phe38Leu)	LY9 (F38L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3038300	NM_002348.4(LY9):c.272G>A (p.Arg91His)	LY9 (R91H)	Single nucleotide variant (missense variant)	LY9-related disorder	GLikely benign
Select item 2685743	GRCh37/hg19 1q23.2-23.3(chr1:160368624-160871262)x1	CD244, CD48 +7 more	Copy number loss	not provided	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 2617691	NM_002348.4(LY9):c.1321C>A (p.Leu441Ile)	LY9 (L441I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2614428	NM_002348.4(LY9):c.535T>G (p.Ser179Ala)	LY9 (S179A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2611028	NM_002348.4(LY9):c.1227A>C (p.Glu409Asp)	LY9 (E409D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2595297	NM_002348.4(LY9):c.707T>C (p.Val236Ala)	LY9 (V236A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2591146	NM_002348.4(LY9):c.1689T>A (p.Phe563Leu)	LY9 (F473L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2589870	NM_002348.4(LY9):c.919G>C (p.Asp307His)	LY9 (D307H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2589673	NM_002348.4(LY9):c.1670G>A (p.Ser557Asn)	LY9 (S543N +2 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2569527	NM_002348.4(LY9):c.1105C>T (p.Leu369Phe)	LY9 (L369F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2551532	NM_002348.4(LY9):c.1103G>T (p.Ser368Ile)	LY9 (S368I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2529146	NM_002348.4(LY9):c.1121A>T (p.Asp374Val)	LY9 (D374V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2519429	NM_002348.4(LY9):c.1169A>T (p.Asn390Ile)	LY9 (N390I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2511878	NM_002348.4(LY9):c.544G>A (p.Gly182Arg)	LY9 (G182R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2456536	NM_002348.4(LY9):c.464A>G (p.Gln155Arg)	LY9 (Q155R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2400335	NM_002348.4(LY9):c.557G>C (p.Ser186Thr)	LY9 (S186T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2390259	NM_002348.4(LY9):c.824G>A (p.Arg275Gln)	LY9 (R275Q)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2388073	NM_002348.4(LY9):c.350G>A (p.Cys117Tyr)	LY9 (C117Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2374646	NM_002348.4(LY9):c.1097C>T (p.Thr366Met)	LY9 (T366M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2374624	NM_002348.4(LY9):c.841G>A (p.Val281Ile)	LY9 (V281I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2324156	NM_002348.4(LY9):c.1462T>C (p.Cys488Arg)	LY9 (C398R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2318119	NM_002348.4(LY9):c.98A>C (p.Gln33Pro)	LY9 (Q33P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2304551	NM_002348.4(LY9):c.1310C>G (p.Ser437Cys)	LY9 (S437C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2290822	NM_002348.4(LY9):c.1571C>T (p.Pro524Leu)	LY9 (P524L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2278672	NM_002348.4(LY9):c.531G>A (p.Met177Ile)	LY9 (M177I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2276608	NM_002348.4(LY9):c.772G>T (p.Val258Leu)	LY9 (V258L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2269970	NM_002348.4(LY9):c.218C>T (p.Thr73Ile)	LY9 (T73I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2266691	NM_002348.4(LY9):c.1714G>A (p.Gly572Arg)	LY9 (G482R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2262479	NM_002348.4(LY9):c.1805T>C (p.Met602Thr)	LY9 (M588T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2253232	NM_002348.4(LY9):c.151G>A (p.Ala51Thr)	LY9 (A51T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2252262	NM_002348.4(LY9):c.1561C>A (p.Pro521Thr)	LY9 (P431T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2250619	NM_002348.4(LY9):c.1860G>C (p.Glu620Asp)	LY9 (E530D +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2244291	NM_002348.4(LY9):c.269C>T (p.Ala90Val)	LY9 (A90V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2227351	NM_002348.4(LY9):c.1487C>T (p.Ala496Val)	LY9 (A496V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2208499	NM_002348.4(LY9):c.173T>C (p.Ile58Thr)	LY9 (I58T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1809367	GRCh37/hg19 1q23.3(chr1:160778879-161190622)x3	ADAMTS4, ARHGAP30 +18 more	Copy number gain	not provided	GUncertain significance
Select item 1809079	GRCh37/hg19 1q23.2-23.3(chr1:159778364-160770515)x3	ATP1A2, ATP1A4 +27 more	Copy number gain	not provided	GUncertain significance
Select item 1705278	NM_002348.4(LY9):c.182del (p.Gly61fs)	LY9 (G61fs)	Deletion (frameshift variant)	not provided	Gassociation
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	ACKR1, ADAMTS4 +90 more	Duplication	Autoimmune interstitial lung disease-arthritis syndrome	GUncertain significance
Select item 1321336	NM_002348.4(LY9):c.1052_1053del (p.His351fs)	LY9 (H351fs)	Deletion (frameshift variant)	Multisystem inflammatory syndrome in children	Grisk factor
Select item 1242630	NM_002348.4(LY9):c.1804A>G (p.Met602Val)	LY9 (M512V +2 more)	Single nucleotide variant (missense variant)	not provided	GBenign
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 783299	NM_002348.4(LY9):c.586C>A (p.Pro196Thr)	LY9 (P196T)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 729550	NM_002348.4(LY9):c.39T>C (p.Pro13=)	LY9	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 726709	NM_002348.4(LY9):c.1432C>T (p.Arg478Ter)	LY9 (R388* +1 more)	Single nucleotide variant (nonsense)	not provided	GLikely benign
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 685941	GRCh37/hg19 1q23.2-23.3(chr1:159808188-161011163)x3	ATP1A2, ATP1A4 +31 more	Copy number gain	not provided	GUncertain significance
Select item 639872	NC_000001.10:g.(?_160786670)_(161332233_?)dup	ADAMTS4, APOA2 +63 more	Duplication	Gastrointestinal stromal tumor +1 more	GUncertain significance
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
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

ClinVar

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Links from Gene

Items: 73