MS4A6E[gene] - ClinVar

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Items: 28

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155601	GRCh38/hg38 11q12.1-12.2(chr11:59851273-60699280)x1	LINC00301, LINC02705 +41 more	Copy number loss	See cases	GLikely benign
Select item 2358389	NM_139249.4(MS4A6E):c.7T>A (p.Ser3Thr)	MS4A6E (S3T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2529909	NM_139249.4(MS4A6E):c.13C>T (p.Pro5Ser)	MS4A6E (P5S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3210775	NM_139249.4(MS4A6E):c.23A>G (p.Asn8Ser)	MS4A6E (N8S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2324816	NM_139249.4(MS4A6E):c.24T>G (p.Asn8Lys)	MS4A6E (N8K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2373786	NM_139249.4(MS4A6E):c.40C>T (p.Leu14Phe)	MS4A6E (L14F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2367123	NM_139249.4(MS4A6E):c.59A>G (p.Asn20Ser)	MS4A6E (N20S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3296192	NM_139249.4(MS4A6E):c.82G>A (p.Glu28Lys)	MS4A6E (E28K)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2283580	NM_139249.4(MS4A6E):c.118C>T (p.Arg40Cys)	MS4A6E (R40C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2389638	NM_139249.4(MS4A6E):c.224C>T (p.Pro75Leu)	MS4A6E (P75L)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2477870	NM_139249.4(MS4A6E):c.314C>T (p.Pro105Leu)	MS4A6E (P105L)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3210785	NM_139249.4(MS4A6E):c.325G>C (p.Asp109His)	MS4A6E (D109H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2371202	NM_139249.4(MS4A6E):c.335G>A (p.Arg112Lys)	MS4A6E (R112K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1176282	NM_139249.4(MS4A6E):c.393G>A (p.Glu131=)	MS4A6E	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3210787	NM_139249.4(MS4A6E):c.394T>A (p.Phe132Ile)	MS4A6E (F132I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2232392	NM_139249.4(MS4A6E):c.425A>G (p.Gln142Arg)	MS4A6E (Q142R)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
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 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 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

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Items: 28