MS4A10[gene] - ClinVar

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Items: 25

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3210357	NM_206893.4(MS4A10):c.32G>A (p.Arg11His)	MS4A10 (R11H)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2344971	NM_206893.4(MS4A10):c.107C>T (p.Thr36Met)	MS4A10 (T36M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3296170	NM_206893.4(MS4A10):c.181G>C (p.Gly61Arg)	MS4A10 (G61R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3296169	NM_206893.4(MS4A10):c.202G>A (p.Ala68Thr)	MS4A10 (A68T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2364605	NM_206893.4(MS4A10):c.233T>C (p.Leu78Pro)	MS4A10 (L78P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2292846	NM_206893.4(MS4A10):c.253C>A (p.Leu85Ile)	MS4A10 (L85I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3210355	NM_206893.4(MS4A10):c.257A>G (p.His86Arg)	MS4A10 (H86R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2312251	NM_206893.4(MS4A10):c.416T>C (p.Leu139Pro)	MS4A10 (L139P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2343728	NM_206893.4(MS4A10):c.432G>T (p.Lys144Asn)	MS4A10 (K144N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2473366	NM_206893.4(MS4A10):c.457G>A (p.Glu153Lys)	MS4A10 (E153K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2218822	NM_206893.4(MS4A10):c.626C>T (p.Pro209Leu)	MS4A10 (P209L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2382356	NM_206893.4(MS4A10):c.695G>A (p.Gly232Asp)	MS4A10 (G232D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3296168	NM_206893.4(MS4A10):c.757T>C (p.Trp253Arg)	MS4A10 (W253R)	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 687991	GRCh37/hg19 11q12.2(chr11:60499486-61529578)x3	CCDC86, CD5 +27 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: 25