VPS37C[gene] - ClinVar

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Items: 37

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3332260	NM_017966.5(VPS37C):c.1016C>T (p.Ala339Val)	VPS37C (A339V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2322460	NM_017966.5(VPS37C):c.940C>A (p.Gln314Lys)	VPS37C (Q314K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2305667	NM_017966.5(VPS37C):c.938T>C (p.Ile313Thr)	VPS37C (I313T)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2341797	NM_017966.5(VPS37C):c.907C>G (p.Pro303Ala)	VPS37C (P303A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3188942	NM_017966.5(VPS37C):c.829A>G (p.Met277Val)	VPS37C (M277V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2335482	NM_017966.5(VPS37C):c.776C>G (p.Ser259Cys)	VPS37C (S259C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2310938	NM_017966.5(VPS37C):c.698A>C (p.Gln233Pro)	VPS37C (Q233P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2596858	NM_017966.5(VPS37C):c.679C>T (p.Pro227Ser)	VPS37C (P227S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2267707	NM_017966.5(VPS37C):c.632C>T (p.Pro211Leu)	VPS37C (P211L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3188941	NM_017966.5(VPS37C):c.581C>T (p.Pro194Leu)	VPS37C (P194L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2553465	NM_017966.5(VPS37C):c.575A>G (p.Glu192Gly)	VPS37C (E192G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2325124	NM_017966.5(VPS37C):c.535G>A (p.Val179Met)	VPS37C (V179M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2228938	NM_017966.5(VPS37C):c.520C>T (p.Arg174Cys)	VPS37C (R174C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2233784	NM_017966.5(VPS37C):c.502G>A (p.Gly168Ser)	VPS37C (G168S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2276051	NM_017966.5(VPS37C):c.448G>A (p.Val150Met)	VPS37C (V150M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3188940	NM_017966.5(VPS37C):c.436C>T (p.Arg146Cys)	VPS37C (R146C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2296816	NM_017966.5(VPS37C):c.395T>C (p.Phe132Ser)	VPS37C (F132S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2481635	NM_017966.5(VPS37C):c.333C>G (p.Ile111Met)	VPS37C (I111M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2234117	NM_017966.5(VPS37C):c.315G>C (p.Gln105His)	VPS37C (Q105H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3188939	NM_017966.5(VPS37C):c.238C>T (p.Arg80Trp)	VPS37C (R80W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2380592	NM_017966.5(VPS37C):c.232G>A (p.Val78Met)	VPS37C (V78M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3188938	NM_017966.5(VPS37C):c.115C>T (p.Arg39Trp)	VPS37C (R39W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3188943	NM_017966.5(VPS37C):c.94G>A (p.Val32Ile)	VPS37C (V32I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2384330	NM_017966.5(VPS37C):c.68A>G (p.Asp23Gly)	VPS37C (D23G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2311748	NM_017966.5(VPS37C):c.16G>T (p.Asp6Tyr)	VPS37C (D6Y)	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: 37