ClinVar for Gene (Select 58475) - ClinVar

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Links from Gene

Items: 27

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3296194	NM_021201.5(MS4A7):c.374C>T (p.Ser125Phe)	MS4A7 (S80F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3296193	NM_021201.5(MS4A7):c.373T>G (p.Ser125Ala)	MS4A7 (S80A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3210830	NM_021201.5(MS4A7):c.662C>T (p.Ser221Leu)	MS4A7 (S176L +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3210819	NM_021201.5(MS4A7):c.371G>A (p.Ser124Asn)	MS4A7 (S124N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3210808	NM_021201.5(MS4A7):c.298T>G (p.Ser100Ala)	MS4A7 (S100A +1 more)	Single nucleotide variant (missense variant)	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 2602085	NM_021201.5(MS4A7):c.437C>A (p.Ser146Tyr)	MS4A7 (S146Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2464153	NM_021201.5(MS4A7):c.652T>C (p.Ser218Pro)	MS4A7 (S218P +1 more)	Single nucleotide variant (missense variant)	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 2409698	NM_021201.5(MS4A7):c.238T>C (p.Ser80Pro)	MS4A7 (S80P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2364574	NM_021201.5(MS4A7):c.296G>A (p.Gly99Glu)	MS4A7 (G54E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2355164	NM_021201.5(MS4A7):c.313T>A (p.Ser105Thr)	MS4A7 (S105T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2325980	NM_021201.5(MS4A7):c.307A>G (p.Ile103Val)	MS4A7 (I58V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2301300	NM_021201.5(MS4A7):c.165T>G (p.Cys55Trp)	MS4A7 (C55W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2276479	NM_021201.5(MS4A7):c.251T>C (p.Met84Thr)	MS4A7 (M84T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2270329	NM_021201.5(MS4A7):c.518A>T (p.Asp173Val)	MS4A7 (D173V +1 more)	Single nucleotide variant (missense variant)	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 997825	Single allele	MMP13, MMP20 +904 more	Deletion	Intellectual disability	GPathogenic
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: 27