"DVL1-related disorder"[Disease/phenotype] AND "PreventionGenetics, pa - ClinVar

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Items: 36

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3033799	NM_001330311.2(DVL1):c.*9G>A	DVL1	Single nucleotide variant (3 prime UTR variant)	DVL1-related disorder	GLikely benign
Select item 1562503	NM_001330311.2(DVL1):c.2005G>T (p.Val669Phe)	DVL1 (V644F +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 1077713	NM_001330311.2(DVL1):c.2004C>T (p.Ala668=)	DVL1	Single nucleotide variant (synonymous variant)	DVL1-related disorder +1 more	GLikely benign
Select item 1168660	NM_001330311.2(DVL1):c.1974C>T (p.Pro658=)	DVL1	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 2888472	NM_001330311.2(DVL1):c.1929G>A (p.Pro643=)	DVL1	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 1436313	NM_001330311.2(DVL1):c.1758G>A (p.Pro586=)	DVL1	Single nucleotide variant (synonymous variant)	DVL1-related disorder +1 more	GLikely benign
Select item 1165908	NM_001330311.2(DVL1):c.1757C>G (p.Pro586Arg)	DVL1 (P561R +1 more)	Single nucleotide variant (missense variant)	DVL1-related disorder +1 more	GBenign/Likely benign
Select item 737293	NM_001330311.2(DVL1):c.1714+8C>G	DVL1, LOC129929114	Single nucleotide variant (intron variant)	not provided +1 more	GBenign/Likely benign
Select item 3032018	NM_001330311.2(DVL1):c.1651C>A (p.Pro551Thr)	DVL1 (P526T +1 more)	Single nucleotide variant (missense variant)	DVL1-related disorder	GUncertain significance
Select item 1562938	NM_001330311.2(DVL1):c.1650G>A (p.Pro550=)	DVL1	Single nucleotide variant (synonymous variant)	DVL1-related disorder +1 more	GLikely benign
Select item 2633766	NM_001330311.2(DVL1):c.1467C>G (p.Phe489Leu)	DVL1 (F464L +1 more)	Single nucleotide variant (missense variant)	DVL1-related disorder	GUncertain significance
Select item 746361	NM_001330311.2(DVL1):c.1461C>A (p.Ile487=)	DVL1	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 445553	NM_001330311.2(DVL1):c.1366A>G (p.Thr456Ala)	DVL1 (T431A +1 more)	Single nucleotide variant (missense variant)	not provided +3 more	GLikely benign
Select item 2195444	NM_001330311.2(DVL1):c.1339+10C>T	DVL1	Single nucleotide variant (intron variant)	not provided +1 more	GLikely benign
Select item 2635182	NM_001330311.2(DVL1):c.1192G>A (p.Val398Met)	DVL1 (V398M)	Single nucleotide variant (missense variant +1 more)	DVL1-related disorder	GUncertain significance
Select item 732338	NM_001330311.2(DVL1):c.1080C>T (p.Pro360=)	DVL1	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 716792	NM_001330311.2(DVL1):c.1044C>T (p.Thr348=)	DVL1	Single nucleotide variant (synonymous variant)	DVL1-related disorder +1 more	GBenign/Likely benign
Select item 728932	NM_001330311.2(DVL1):c.858C>T (p.Gly286=)	DVL1	Single nucleotide variant (synonymous variant)	DVL1-related disorder +1 more	GBenign/Likely benign
Select item 3029693	NM_001330311.2(DVL1):c.855G>A (p.Lys285=)	DVL1	Single nucleotide variant (synonymous variant)	DVL1-related disorder	GLikely benign
Select item 3042235	NM_001330311.2(DVL1):c.825C>T (p.Asp275=)	DVL1	Single nucleotide variant (synonymous variant)	DVL1-related disorder	GLikely benign
Select item 1615720	NM_001330311.2(DVL1):c.770-5T>C	DVL1	Single nucleotide variant (intron variant)	DVL1-related disorder +1 more	GLikely benign
Select item 724623	NM_001330311.2(DVL1):c.770-6C>T	DVL1	Single nucleotide variant (intron variant)	DVL1-related disorder +1 more	GBenign/Likely benign
Select item 3052053	NM_001330311.2(DVL1):c.770-7C>G	DVL1	Single nucleotide variant (intron variant)	DVL1-related disorder	GLikely benign
Select item 1576823	NM_001330311.2(DVL1):c.770-7C>T	DVL1	Single nucleotide variant (intron variant)	DVL1-related disorder +1 more	GBenign/Likely benign
Select item 727700	NM_001330311.2(DVL1):c.759G>A (p.Thr253=)	DVL1	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 1556553	NM_001330311.2(DVL1):c.702C>T (p.Ala234=)	DVL1	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 599454	NM_001330311.2(DVL1):c.685C>G (p.Arg229Gly)	DVL1 (R229G)	Single nucleotide variant (missense variant)	DVL1-related disorder +2 more	GBenign/Likely benign
Select item 2632725	NM_001330311.2(DVL1):c.606-9del	DVL1	Deletion (intron variant)	DVL1-related disorder	GUncertain significance
Select item 728840	NM_001330311.2(DVL1):c.532G>A (p.Ala178Thr)	DVL1 (A178T)	Single nucleotide variant (missense variant)	DVL1-related disorder +1 more	GLikely benign
Select item 779999	NM_001330311.2(DVL1):c.531C>T (p.Ser177=)	DVL1	Single nucleotide variant (synonymous variant)	DVL1-related disorder +1 more	GBenign/Likely benign
Select item 1169213	NM_001330311.2(DVL1):c.469G>A (p.Ala157Thr)	DVL1 (A157T)	Single nucleotide variant (missense variant)	DVL1-related disorder +1 more	GBenign
Select item 2634441	NM_001330311.2(DVL1):c.460G>A (p.Glu154Lys)	DVL1 (E154K)	Single nucleotide variant (missense variant)	DVL1-related disorder	GUncertain significance
Select item 3039029	NM_001330311.2(DVL1):c.396C>T (p.Asp132=)	DVL1	Single nucleotide variant (synonymous variant)	DVL1-related disorder	GLikely benign
Select item 788936	NM_001330311.2(DVL1):c.272C>T (p.Ala91Val)	DVL1 (A91V)	Single nucleotide variant (missense variant)	not provided +3 more	GBenign/Likely benign
Select item 2848263	NM_001330311.2(DVL1):c.204C>T (p.Ala68=)	DVL1	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 1202732	NM_001330311.2(DVL1):c.177G>A (p.Val59=)	DVL1	Single nucleotide variant (synonymous variant)	DVL1-related disorder +1 more	GBenign/Likely benign

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Items: 36