ClinVar for Gene (Select 126862480) - ClinVar

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Links from Gene

Items: 24

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3060815	NM_004422.3(DVL2):c.405C>T (p.Ser135=)	DVL2, LOC126862480	Single nucleotide variant (synonymous variant)	DVL2-related condition	GBenign
Select item 3057425	NM_004422.3(DVL2):c.332C>T (p.Ala111Val)	DVL2, LOC126862480 (A111V)	Single nucleotide variant (missense variant)	DVL2-related condition	GLikely benign
Select item 3056184	NM_004422.3(DVL2):c.410+10T>C	DVL2, LOC126862480	Single nucleotide variant (intron variant)	DVL2-related condition	GBenign
Select item 3046278	NM_004422.3(DVL2):c.579G>A (p.Glu193=)	DVL2, LOC126862480	Single nucleotide variant (synonymous variant)	DVL2-related condition	GLikely benign
Select item 3038109	NM_004422.3(DVL2):c.656+8T>G	DVL2, LOC126862480	Single nucleotide variant (intron variant)	DVL2-related condition	GLikely benign
Select item 2593353	NM_004422.3(DVL2):c.289C>T (p.Pro97Ser)	DVL2, LOC126862480 (P97S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2579287	GRCh38/hg38 17p13.3-12(chr17:165730-11404096)x3	LOC130060077, LOC130060078 +911 more	Copy number gain	Chromosome 17p13.3 duplication syndrome	GPathogenic
Select item 2536876	NM_004422.3(DVL2):c.636C>G (p.Asp212Glu)	DVL2, LOC126862480 (D212E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2520624	NM_004422.3(DVL2):c.356C>T (p.Pro119Leu)	DVL2, LOC126862480 (P119L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2492792	NM_004422.3(DVL2):c.481C>T (p.Arg161Trp)	DVL2, LOC126862480 (R161W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2279789	NM_004422.3(DVL2):c.442G>C (p.Glu148Gln)	DVL2, LOC126862480 (E148Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2245551	NM_004422.3(DVL2):c.374C>T (p.Thr125Ile)	DVL2, LOC126862480 (T125I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2212050	NM_004422.3(DVL2):c.559C>T (p.Arg187Cys)	DVL2, LOC126862480 (R187C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 511152	NM_004422.3(DVL2):c.621C>T (p.Ser207=)	DVL2, LOC126862480	Single nucleotide variant (synonymous variant)	not specified	GBenign
Select item 154089	GRCh38/hg38 17p13.3-12(chr17:150732-14764202)x3	LOC130060143, LOC130060144 +963 more	Copy number gain	See cases	GPathogenic
Select item 150350	GRCh38/hg38 17p13.1(chr17:6891357-7264234)x3	ACADVL, ALOX12 +53 more	Copy number gain	See cases	GUncertain significance
Select item 149531	GRCh38/hg38 17p13.3-12(chr17:162016-12343901)x3	MIR6883, MIR744 +923 more	Copy number gain	See cases	GPathogenic
Select item 149166	GRCh38/hg38 17p13.2-13.1(chr17:6361393-7750863)x3	ACADVL, ACAP1 +182 more	Copy number gain	See cases	GLikely pathogenic
Select item 149158	GRCh38/hg38 17p13.3-13.1(chr17:162016-7697012)x1	ABR, ABR-AS1 +652 more	Copy number loss	See cases	GPathogenic
Select item 145642	GRCh38/hg38 17p13.3-13.1(chr17:198748-7491129)x3	YWHAE, ZBTB4 +605 more	Copy number gain	See cases	GPathogenic
Select item 145484	GRCh38/hg38 17p13.2-12(chr17:5732953-12095349)x3	LOC126862500, LOC126862501 +461 more	Copy number gain	See cases	GPathogenic
Select item 144281	GRCh38/hg38 17p13.1(chr17:6958978-7491129)x3	ACADVL, ACAP1 +106 more	Copy number gain	See cases	GUncertain significance
Select item 59582	GRCh38/hg38 17p13.1(chr17:7210345-7496934)x1	ACADVL, ACAP1 +72 more	Copy number loss	See cases	GPathogenic
Select item 57356	GRCh38/hg38 17p13.2-13.1(chr17:5732977-8038822)x1	ACADVL, ACAP1 +229 more	Copy number loss	See cases	GPathogenic

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Links from Gene

Items: 24