MS4A8[gene] - ClinVar

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Items: 33

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2542014	NM_031457.2(MS4A8):c.12G>T (p.Met4Ile)	MS4A8 (M4I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3210854	NM_031457.2(MS4A8):c.59A>C (p.His20Pro)	MS4A8 (H20P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3210861	NM_031457.2(MS4A8):c.62A>G (p.Asn21Ser)	MS4A8 (N21S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2521867	NM_031457.2(MS4A8):c.265A>G (p.Ile89Val)	MS4A8 (I89V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3210838	NM_031457.2(MS4A8):c.281T>G (p.Leu94Arg)	MS4A8 (L94R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2517705	NM_031457.2(MS4A8):c.309C>G (p.Phe103Leu)	MS4A8 (F103L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2612119	NM_031457.2(MS4A8):c.327C>A (p.Phe109Leu)	MS4A8 (F109L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2252811	NM_031457.2(MS4A8):c.349A>G (p.Ile117Val)	MS4A8 (I117V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2239733	NM_031457.2(MS4A8):c.356G>A (p.Gly119Glu)	MS4A8 (G119E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2306095	NM_031457.2(MS4A8):c.367G>A (p.Val123Met)	MS4A8 (V123M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3296195	NM_031457.2(MS4A8):c.430G>A (p.Val144Ile)	MS4A8 (V144I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2524472	NM_031457.2(MS4A8):c.487C>G (p.Pro163Ala)	MS4A8 (P163A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2224741	NM_031457.2(MS4A8):c.488C>G (p.Pro163Arg)	MS4A8 (P163R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3210846	NM_031457.2(MS4A8):c.508G>A (p.Asp170Asn)	MS4A8 (D170N)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2260741	NM_031457.2(MS4A8):c.510C>G (p.Asp170Glu)	MS4A8 (D170E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2359392	NM_031457.2(MS4A8):c.583G>C (p.Glu195Gln)	MS4A8 (E195Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2568624	NM_031457.2(MS4A8):c.601G>C (p.Ala201Pro)	MS4A8 (A201P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2325915	NM_031457.2(MS4A8):c.635G>C (p.Cys212Ser)	MS4A8 (C212S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2536160	NM_031457.2(MS4A8):c.647A>G (p.Asn216Ser)	MS4A8 (N216S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3210867	NM_031457.2(MS4A8):c.658A>G (p.Ile220Val)	MS4A8 (I220V)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3210868	NM_031457.2(MS4A8):c.673T>C (p.Tyr225His)	MS4A8 (Y225H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2336533	NM_031457.2(MS4A8):c.697C>A (p.Pro233Thr)	MS4A8 (P233T)	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 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 815435	GRCh37/hg19 11q12.2-12.3(chr11:60385382-62456278)x3	CD5, CD6 +58 more	Copy number gain	not provided	GUncertain significance
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

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Items: 33