"Labcorp Genetics (formerly Invitae), Labcorp"[submitter] AND "LOC1299 - ClinVar

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Items: 23

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1990154	NM_138370.3(PKDCC):c.453C>G (p.Ala151=)	LOC129933566, PKDCC	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2750324	NM_138370.3(PKDCC):c.456G>A (p.Val152=)	LOC129933566, PKDCC	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1390237	NM_138370.3(PKDCC):c.478G>T (p.Gly160Cys)	LOC129933566, PKDCC (G160C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1327046	NM_138370.3(PKDCC):c.480T>C (p.Gly160=)	LOC129933566, PKDCC	Single nucleotide variant (synonymous variant)	Rhizomelic limb shortening with dysmorphic features +1 more	GBenign
Select item 1904598	NM_138370.3(PKDCC):c.483C>T (p.Ala161=)	LOC129933566, PKDCC	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1455668	NM_138370.3(PKDCC):c.492del (p.Leu165fs)	LOC129933566, PKDCC (L165fs)	Deletion (frameshift variant)	not provided	GPathogenic/Likely pathogenic
Select item 2861261	NM_138370.3(PKDCC):c.499del (p.Ala167fs)	LOC129933566, PKDCC (A167fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 2989410	NM_138370.3(PKDCC):c.501G>A (p.Ala167=)	LOC129933566, PKDCC	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2976140	NM_138370.3(PKDCC):c.523C>T (p.Leu175=)	LOC129933566, PKDCC	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2124340	NM_138370.3(PKDCC):c.525G>A (p.Leu175=)	LOC129933566, PKDCC	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1599805	NM_138370.3(PKDCC):c.534C>T (p.Cys178=)	LOC129933566, PKDCC	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1525377	NM_138370.3(PKDCC):c.535G>C (p.Val179Leu)	LOC129933566, PKDCC (V179L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1584758	NM_138370.3(PKDCC):c.537G>C (p.Val179=)	LOC129933566, PKDCC	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1466123	NM_138370.3(PKDCC):c.542A>T (p.Glu181Val)	LOC129933566, PKDCC (E181V)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1509730	NM_138370.3(PKDCC):c.547G>A (p.Gly183Arg)	LOC129933566, PKDCC (G183R)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1484742	NM_138370.3(PKDCC):c.553C>G (p.Arg185Gly)	LOC129933566, PKDCC (R185G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1386239	NM_138370.3(PKDCC):c.566A>T (p.Tyr189Phe)	LOC129933566, PKDCC (Y189F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1905060	NM_138370.3(PKDCC):c.590T>G (p.Leu197Arg)	LOC129933566, PKDCC (L197R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1722582	NM_138370.3(PKDCC):c.606dup (p.Leu203fs)	LOC129933566, PKDCC (L203fs)	Duplication (frameshift variant)	not provided	GPathogenic
Select item 2781811	NM_138370.3(PKDCC):c.613C>A (p.Arg205=)	LOC129933566, PKDCC	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1501834	NM_138370.3(PKDCC):c.619C>T (p.Arg207Trp)	LOC129933566, PKDCC (R207W)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1487648	NM_138370.3(PKDCC):c.639G>A (p.Gln213=)	LOC129933566, PKDCC	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 522098	NM_138370.3(PKDCC):c.639+1G>T	PKDCC, LOC129933566	Single nucleotide variant (splice donor variant)	Inborn genetic diseases +1 more	GPathogenic/Likely pathogenic

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Items: 23