ClinVar for Gene (Select 84689) - ClinVar

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Links from Gene

Items: 51

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3296180	NM_032597.5(MS4A14):c.14C>A (p.Ser5Tyr)	MS4A14 (S5Y)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3296179	NM_032597.5(MS4A14):c.1093A>C (p.Thr365Pro)	MS4A14 (T348P +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3296178	NM_032597.5(MS4A14):c.1925A>G (p.Gln642Arg)	MS4A14 (Q675R +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3296177	NM_032597.5(MS4A14):c.314T>G (p.Leu105Arg)	MS4A14 (L105R)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3296176	NM_032597.5(MS4A14):c.1394T>A (p.Met465Lys)	MS4A14 (M465K +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3210512	NM_032597.5(MS4A14):c.884A>G (p.Gln295Arg)	MS4A14 (Q295R +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3210507	NM_032597.5(MS4A14):c.856C>A (p.Pro286Thr)	MS4A14 (P286T +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3210505	NM_032597.5(MS4A14):c.841T>A (p.Ser281Thr)	MS4A14 (S297T +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3210498	NM_032597.5(MS4A14):c.826G>C (p.Asp276His)	MS4A14 (D276H +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3210486	NM_032597.5(MS4A14):c.583A>G (p.Thr195Ala)	MS4A14 (T211A +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3210461	NM_032597.5(MS4A14):c.1971C>G (p.His657Gln)	MS4A14 (H690Q +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3210445	NM_032597.5(MS4A14):c.1352A>G (p.Gln451Arg)	MS4A14 (Q434R +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3210435	NM_032597.5(MS4A14):c.1154T>A (p.Met385Lys)	MS4A14 (M401K +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3063215	GRCh37/hg19 11q12.1-13.3(chr11:56895955-69295402)x3	ACTN3, ACY3 +343 more	Copy number gain	not specified	GLikely pathogenic
Select item 3063189	GRCh37/hg19 11p11.12-q13.1(chr11:50398499-63924462)x3	AHNAK, APLNR +225 more	Copy number gain	not specified	GLikely pathogenic
Select item 2684646	GRCh37/hg19 11q12.2-13.5(chr11:59923608-76272324)x3	FOLR2, RAB3IL1 +362 more	Copy number gain	not provided	GPathogenic
Select item 2611451	NM_032597.5(MS4A14):c.838C>A (p.Gln280Lys)	MS4A14 (Q263K +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2602763	NM_032597.5(MS4A14):c.1775A>G (p.Asp592Gly)	MS4A14 (D592G +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2549243	NM_032597.5(MS4A14):c.1365G>A (p.Met455Ile)	MS4A14 (M438I +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2548262	NM_032597.5(MS4A14):c.1243A>G (p.Ile415Val)	MS4A14 (I398V +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2534540	NM_032597.5(MS4A14):c.1453C>T (p.Arg485Trp)	MS4A14 (R485W +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2520167	NM_032597.5(MS4A14):c.598G>C (p.Val200Leu)	MS4A14 (V183L +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2469124	NM_032597.5(MS4A14):c.428C>T (p.Ser143Phe)	MS4A14 (S126F +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2464346	NM_032597.5(MS4A14):c.622T>C (p.Phe208Leu)	MS4A14 (F191L +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2457597	NM_032597.5(MS4A14):c.937G>A (p.Glu313Lys)	MS4A14 (E329K +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2454924	NM_032597.5(MS4A14):c.488C>T (p.Ser163Leu)	MS4A14 (S163L +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2427421	NC_000011.9:g.(?_59939307)_(60235941_?)dup	MS4A1, MS4A14 +6 more	Duplication	not provided	GUncertain significance
Select item 2425028	NC_000011.9:g.(?_58916346)_(64972349_?)dup	AHNAK, ARL2 +182 more	Duplication	Leukocyte adhesion deficiency 3	GUncertain significance
Select item 2395179	NM_032597.5(MS4A14):c.575A>T (p.Asp192Val)	MS4A14 (D175V +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2379965	NM_032597.5(MS4A14):c.1112T>C (p.Leu371Pro)	MS4A14 (L354P +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2366971	NM_032597.5(MS4A14):c.650T>C (p.Leu217Ser)	MS4A14 (L217S +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2359482	NM_032597.5(MS4A14):c.530A>G (p.Asn177Ser)	MS4A14 (N160S +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2337340	NM_032597.5(MS4A14):c.271A>G (p.Ile91Val)	MS4A14 (I91V)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2333304	NM_032597.5(MS4A14):c.415T>A (p.Cys139Ser)	MS4A14 (C139S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2329387	NM_032597.5(MS4A14):c.656C>T (p.Ser219Phe)	MS4A14 (S202F +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2327979	NM_032597.5(MS4A14):c.544T>A (p.Phe182Ile)	MS4A14 (F182I +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2298049	NM_032597.5(MS4A14):c.1235C>T (p.Ala412Val)	MS4A14 (A412V +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2286647	NM_032597.5(MS4A14):c.1076G>A (p.Gly359Asp)	MS4A14 (G392D +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2286539	NM_032597.5(MS4A14):c.1617C>G (p.Asp539Glu)	MS4A14 (D539E +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2248707	NM_032597.5(MS4A14):c.577T>C (p.Ser193Pro)	MS4A14 (S193P +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2244152	NM_032597.5(MS4A14):c.1394T>G (p.Met465Arg)	MS4A14 (M448R +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1707422	GRCh37/hg19 11p11.2-q12.2(chr11:51581311-54891247)x3	ACP2, ACCS +216 more	Copy number gain	See cases	GPathogenic
Select item 1704646	GRCh37/hg19 11p13-q25(chr11:32799481-134938470)x3	MAML2, MAP3K11 +955 more	Copy number gain	MISSED ABORTION	GPathogenic
Select item 1184865	NM_032597.5(MS4A14):c.167_168dup (p.Val57fs)	MS4A14 (V57fs)	Duplication (frameshift variant +1 more)	Essential tremor	GUncertain significance
Select item 997825	Single allele	MMP13, MMP20 +904 more	Deletion	Intellectual disability	GPathogenic
Select item 778538	NM_032597.5(MS4A14):c.288C>G (p.Leu96=)	MS4A14	Single nucleotide variant (synonymous variant +2 more)	not provided	GBenign
Select item 563873	GRCh37/hg19 11q12.1-12.3(chr11:58935215-62177656)x3	ASRGL1, BEST1 +72 more	Copy number gain	not provided	GLikely pathogenic
Select item 441904	GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)	AAMDC, AASDHPPT +1289 more	Copy number gain	See cases	GPathogenic
Select item 441903	GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)x3	SLC37A4, SNORD26 +1289 more	Copy number gain	See cases	GPathogenic
Select item 395398	GRCh37/hg19 11q12.1-12.2(chr11:59679631-60167878)x3	MS4A14, MS4A2 +7 more	Copy number gain	See cases	GUncertain significance
Select item 155601	GRCh38/hg38 11q12.1-12.2(chr11:59851273-60699280)x1	LINC00301, LINC02705 +41 more	Copy number loss	See cases	GLikely benign

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Links from Gene

Items: 51