PKDCC[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59133	GRCh38/hg38 2p25.3-16.1(chr2:66097-55570637)x3	LOC129933311, LOC129933312 +1631 more	Copy number gain	See cases	GPathogenic
Select item 155615	GRCh38/hg38 2p25.3-21(chr2:236816-45983232)x3	LINC01115, LINC01121 +1400 more	Copy number gain	See cases	GPathogenic
Select item 152995	GRCh38/hg38 2p25.1-11.2(chr2:7495123-87705899)x3	HAAO, HADHA +2457 more	Copy number gain	See cases	GBenign
Select item 59143	GRCh38/hg38 2p22.1-16.1(chr2:40738282-57863821)x3	ABCG5, ABCG8 +443 more	Copy number gain	See cases	GPathogenic
Select item 59144	GRCh38/hg38 2p21(chr2:41999414-42915744)x3	OXER1, PKDCC +53 more	Copy number gain	See cases	GPathogenic
Select item 2960137	NM_138370.3(PKDCC):c.16G>A (p.Ala6Thr)	LOC129933563, PKDCC (A6T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1501380	NM_138370.3(PKDCC):c.17C>T (p.Ala6Val)	LOC129933563, PKDCC (A6V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2376382	NM_138370.3(PKDCC):c.47T>G (p.Phe16Cys)	LOC129933563, PKDCC (F16C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1904497	NM_138370.3(PKDCC):c.60C>T (p.Ser20=)	LOC129933563, PKDCC	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1664757	NM_138370.3(PKDCC):c.60C>G (p.Ser20=)	LOC129933563, PKDCC	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1369103	NM_138370.3(PKDCC):c.95C>T (p.Pro32Leu)	LOC129933563, PKDCC (P32L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1379655	NM_138370.3(PKDCC):c.97C>A (p.Pro33Thr)	LOC129933563, PKDCC (P33T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2285331	NM_138370.3(PKDCC):c.111G>C (p.Gln37His)	LOC129933564, PKDCC (Q37H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2569471	NM_138370.3(PKDCC):c.119A>G (p.Glu40Gly)	LOC129933564, PKDCC (E40G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2957395	NM_138370.3(PKDCC):c.123T>C (p.Pro41=)	LOC129933564, PKDCC	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1896349	NM_138370.3(PKDCC):c.125C>T (p.Ser42Leu)	LOC129933564, PKDCC (S42L)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1540634	NM_138370.3(PKDCC):c.132C>T (p.Ala44=)	LOC129933564, PKDCC	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1484544	NM_138370.3(PKDCC):c.137G>A (p.Gly46Asp)	LOC129933564, PKDCC (G46D)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1991323	NM_138370.3(PKDCC):c.141G>A (p.Pro47=)	LOC129933564, PKDCC	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2094149	NM_138370.3(PKDCC):c.199G>C (p.Val67Leu)	LOC129933564, PKDCC (V67L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1563811	NM_138370.3(PKDCC):c.204G>A (p.Gln68=)	LOC129933564, PKDCC	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1433203	NM_138370.3(PKDCC):c.209A>G (p.Tyr70Cys)	LOC129933564, PKDCC (Y70C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3213707	NM_138370.3(PKDCC):c.212C>T (p.Ser71Phe)	PKDCC (S71F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1947336	NM_138370.3(PKDCC):c.222C>G (p.Gly74=)	PKDCC	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1803946	NM_138370.3(PKDCC):c.228dup (p.Pro77fs)	PKDCC (P77fs)	Duplication (frameshift variant)	Rhizomelic limb shortening with dysmorphic features	GLikely pathogenic
Select item 2753588	NM_138370.3(PKDCC):c.226_235del (p.Gly76fs)	PKDCC (G76fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 1354847	NM_138370.3(PKDCC):c.265G>C (p.Asp89His)	PKDCC (D89H)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2990061	NM_138370.3(PKDCC):c.267C>T (p.Asp89=)	PKDCC	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1898247	NM_138370.3(PKDCC):c.271G>A (p.Ala91Thr)	PKDCC (A91T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1988899	NM_138370.3(PKDCC):c.276G>C (p.Pro92=)	PKDCC	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1902714	NM_138370.3(PKDCC):c.276G>A (p.Pro92=)	PKDCC	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1450395	NM_138370.3(PKDCC):c.277G>C (p.Gly93Arg)	PKDCC (G93R)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1722583	NM_138370.3(PKDCC):c.290_320del (p.Leu97fs)	PKDCC (L97fs)	Deletion (frameshift variant)	not provided	GLikely pathogenic
Select item 1406247	NM_138370.3(PKDCC):c.304C>G (p.Pro102Ala)	PKDCC (P102A)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 3306955	NM_138370.3(PKDCC):c.305C>G (p.Pro102Arg)	PKDCC (P102R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1989157	NM_138370.3(PKDCC):c.308C>G (p.Pro103Arg)	PKDCC (P103R)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1899036	NM_138370.3(PKDCC):c.315C>T (p.Ala105=)	PKDCC	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2314089	NM_138370.3(PKDCC):c.320C>T (p.Pro107Leu)	PKDCC (P107L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1898145	NM_138370.3(PKDCC):c.320C>G (p.Pro107Arg)	PKDCC (P107R)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1637667	NM_138370.3(PKDCC):c.322C>T (p.Leu108=)	PKDCC	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1327044	NM_138370.3(PKDCC):c.325T>C (p.Ser109Pro)	PKDCC (S109P)	Single nucleotide variant (missense variant)	Rhizomelic limb shortening with dysmorphic features +1 more	GBenign
Select item 1363862	NM_138370.3(PKDCC):c.331G>A (p.Gly111Ser)	PKDCC (G111S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1477365	NM_138370.3(PKDCC):c.332G>T (p.Gly111Val)	PKDCC (G111V)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1942112	NM_138370.3(PKDCC):c.338C>G (p.Pro113Arg)	PKDCC (P113R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1503219	NM_138370.3(PKDCC):c.340G>A (p.Gly114Ser)	PKDCC (G114S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1464512	NM_138370.3(PKDCC):c.346C>T (p.Pro116Ser)	LOC129933565, PKDCC (P116S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1905239	NM_138370.3(PKDCC):c.347C>T (p.Pro116Leu)	LOC129933565, PKDCC (P116L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1928985	NM_138370.3(PKDCC):c.351G>A (p.Pro117=)	LOC129933565, PKDCC	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2569472	NM_138370.3(PKDCC):c.359G>T (p.Gly120Val)	LOC129933565, PKDCC (G120V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2985805	NM_138370.3(PKDCC):c.362del (p.Pro121fs)	LOC129933565, PKDCC (P121fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 1953657	NM_138370.3(PKDCC):c.364G>T (p.Gly122Cys)	LOC129933565, PKDCC (G122C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1955691	NM_138370.3(PKDCC):c.369C>G (p.Ser123=)	LOC129933565, PKDCC	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1390852	NM_138370.3(PKDCC):c.375_379del (p.Gly127fs)	LOC129933565, PKDCC (G127fs)	Microsatellite (frameshift variant)	not provided	GPathogenic
Select item 1461194	NM_138370.3(PKDCC):c.378G>A (p.Pro126=)	LOC129933565, PKDCC	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 1941831	NM_138370.3(PKDCC):c.380G>A (p.Gly127Asp)	LOC129933565, PKDCC (G127D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1521618	NM_138370.3(PKDCC):c.380G>T (p.Gly127Val)	LOC129933565, PKDCC (G127V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1327045	NM_138370.3(PKDCC):c.387C>G (p.Arg129=)	LOC129933565, PKDCC	Single nucleotide variant (synonymous variant)	Rhizomelic limb shortening with dysmorphic features +1 more	GBenign
Select item 2315723	NM_138370.3(PKDCC):c.391G>T (p.Gly131Cys)	LOC129933565, PKDCC (G131C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1405940	NM_138370.3(PKDCC):c.430A>G (p.Met144Val)	PKDCC (M144V)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1943729	NM_138370.3(PKDCC):c.441C>A (p.Gly147=)	PKDCC	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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	GUncertain significance
Select item 2407751	NM_138370.3(PKDCC):c.548G>A (p.Gly183Glu)	LOC129933566, PKDCC (G183E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2569474	NM_138370.3(PKDCC):c.551T>C (p.Val184Ala)	LOC129933566, PKDCC (V184A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
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 3306953	NM_138370.3(PKDCC):c.586C>G (p.Leu196Val)	LOC129933566, PKDCC (L196V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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	LOC129933566, PKDCC	Single nucleotide variant (splice donor variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 2113408	NM_138370.3(PKDCC):c.640-19T>C	PKDCC	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1395437	NM_138370.3(PKDCC):c.640-12G>A	PKDCC	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2190408	NM_138370.3(PKDCC):c.640-5C>G	PKDCC	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1450350	NM_138370.3(PKDCC):c.640-3C>T	PKDCC	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1986184	NM_138370.3(PKDCC):c.643T>C (p.Tyr215His)	PKDCC (Y215H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 521769	NM_138370.3(PKDCC):c.651C>A (p.Tyr217Ter)	PKDCC (Y217*)	Single nucleotide variant (nonsense)	Inborn genetic diseases	GLikely pathogenic
Select item 1431059	NM_138370.3(PKDCC):c.665G>A (p.Ser222Asn)	PKDCC (S222N)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1509255	NM_138370.3(PKDCC):c.667G>A (p.Glu223Lys)	PKDCC (E223K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2417719	NM_138370.3(PKDCC):c.684C>T (p.Thr228=)	PKDCC	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3346707	NM_138370.3(PKDCC):c.685C>A (p.Leu229Met)	PKDCC (L229M)	Single nucleotide variant (missense variant)	PKDCC-related disorder	GUncertain significance
Select item 1584679	NM_138370.3(PKDCC):c.709G>A (p.Ala237Thr)	PKDCC (A237T)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 1460514	NM_138370.3(PKDCC):c.712C>T (p.Pro238Ser)	PKDCC (P238S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2299226	NM_138370.3(PKDCC):c.726C>G (p.Ile242Met)	PKDCC (I242M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1566263	NM_138370.3(PKDCC):c.738A>G (p.Gln246=)	PKDCC	Single nucleotide variant (synonymous variant)	not provided	GLikely benign

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