C4540575[trait identifier] AND "Victorian Clinical Genetics Services, - ClinVar

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Items: 57

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 498395	NM_138694.4(PKHD1):c.12225A>T (p.Ter4075Cys)	PKHD1	Single nucleotide variant (stop lost)	Polycystic kidney disease 4 +1 more	GUncertain significance
Select item 631985	NM_138694.4(PKHD1):c.12142C>T (p.Gln4048Ter)	PKHD1 (Q4048*)	Single nucleotide variant (nonsense)	Polycystic kidney disease 4 +1 more	GUncertain significance
Select item 551016	NM_138694.4(PKHD1):c.11881C>T (p.Arg3961Ter)	PKHD1 (R3961*)	Single nucleotide variant (nonsense)	Polycystic kidney disease 4 +2 more	GConflicting classifications of pathogenicity
Select item 1454836	NM_138694.4(PKHD1):c.11468C>G (p.Ser3823Ter)	PKHD1 (S3823*)	Single nucleotide variant (nonsense)	Polycystic kidney disease 4 +1 more	GPathogenic
Select item 656036	NM_138694.4(PKHD1):c.11398+2T>C	PKHD1	Single nucleotide variant (splice donor variant)	Autosomal recessive polycystic kidney disease +1 more	GPathogenic/Likely pathogenic
Select item 1806325	NM_138694.4(PKHD1):c.10315G>T (p.Asp3439Tyr)	PKHD1 (D3439Y)	Single nucleotide variant (missense variant)	Polycystic kidney disease 4 +1 more	GConflicting classifications of pathogenicity
Select item 198314	NM_138694.4(PKHD1):c.10219C>T (p.Gln3407Ter)	PKHD1 (Q3407*)	Single nucleotide variant (nonsense)	not provided +2 more	GPathogenic
Select item 488579	NM_138694.4(PKHD1):c.10174C>T (p.Gln3392Ter)	PKHD1 (Q3392*)	Single nucleotide variant (nonsense)	not provided +3 more	GPathogenic
Select item 371184	NM_138694.4(PKHD1):c.10109dup (p.Phe3371fs)	PKHD1 (F3371fs)	Duplication (frameshift variant)	Polycystic kidney disease 4 +2 more	GPathogenic/Likely pathogenic
Select item 1805792	NM_138694.4(PKHD1):c.10075G>C (p.Gly3359Arg)	PKHD1 (G3359R)	Single nucleotide variant (missense variant)	Polycystic kidney disease 4	GUncertain significance
Select item 441087	NM_138694.4(PKHD1):c.9925A>G (p.Ile3309Val)	PKHD1 (I3309V)	Single nucleotide variant (missense variant)	Polycystic kidney disease 4 +3 more	GConflicting classifications of pathogenicity
Select item 1806329	NM_138694.4(PKHD1):c.9825del (p.Gln3276fs)	PKHD1 (Q3276fs)	Deletion (frameshift variant)	Polycystic kidney disease 4	GPathogenic
Select item 1804988	NM_138694.4(PKHD1):c.9715G>A (p.Gly3239Ser)	PKHD1 (G3239S)	Single nucleotide variant (missense variant)	Polycystic kidney disease 4	GLikely pathogenic
Select item 357415	NM_138694.4(PKHD1):c.9705T>A (p.Asn3235Lys)	PKHD1 (N3235K)	Single nucleotide variant (missense variant)	Polycystic kidney disease 4 +1 more	GConflicting classifications of pathogenicity
Select item 189090	NM_138694.4(PKHD1):c.9319C>T (p.Arg3107Ter)	PKHD1 (R3107*)	Single nucleotide variant (nonsense)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 594333	NM_138694.4(PKHD1):c.9107T>G (p.Val3036Gly)	PKHD1 (V3036G)	Single nucleotide variant (missense variant)	Autosomal recessive polycystic kidney disease +2 more	GConflicting classifications of pathogenicity
Select item 813373	NM_138694.4(PKHD1):c.8935C>T (p.Arg2979Ter)	PKHD1 (R2979*)	Single nucleotide variant (nonsense)	Polycystic kidney disease 4 +1 more	GPathogenic/Likely pathogenic
Select item 357423	NM_138694.4(PKHD1):c.8870T>C (p.Ile2957Thr)	PKHD1 (I2957T)	Single nucleotide variant (missense variant)	Autosomal recessive polycystic kidney disease +3 more	GPathogenic
Select item 1805071	NM_138694.4(PKHD1):c.8864G>A (p.Arg2955Gln)	PKHD1 (R2955Q)	Single nucleotide variant (missense variant)	Polycystic kidney disease 4	GLikely pathogenic
Select item 1073734	NM_138694.4(PKHD1):c.8863C>T (p.Arg2955Ter)	PKHD1 (R2955*)	Single nucleotide variant (nonsense)	Polycystic kidney disease 4 +1 more	GPathogenic
Select item 96439	NM_138694.4(PKHD1):c.8824C>T (p.Arg2942Ter)	PKHD1 (R2942*)	Single nucleotide variant (nonsense)	Polycystic kidney disease 4 +2 more	GPathogenic/Likely pathogenic
Select item 96434	NM_138694.4(PKHD1):c.8425G>A (p.Gly2809Arg)	PKHD1 (G2809R)	Single nucleotide variant (missense variant)	Polycystic kidney disease 4 +3 more	GConflicting classifications of pathogenicity
Select item 551996	NM_138694.4(PKHD1):c.7350+653A>G	PKHD1	Single nucleotide variant (intron variant)	Polycystic kidney disease 4 +1 more	GPathogenic/Likely pathogenic
Select item 96419	NM_138694.4(PKHD1):c.7280T>C (p.Ile2427Thr)	PKHD1 (I2427T)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 188813	NM_138694.4(PKHD1):c.6992T>A (p.Ile2331Lys)	PKHD1 (I2331K)	Single nucleotide variant (missense variant)	Polycystic kidney disease 4 +2 more	GPathogenic/Likely pathogenic
Select item 167486	NM_138694.4(PKHD1):c.5895dup (p.Leu1966fs)	PKHD1 (L1966fs)	Duplication (frameshift variant)	Polycystic kidney disease 4 +2 more	GPathogenic
Select item 813379	NM_138694.4(PKHD1):c.5751+3A>G	PKHD1	Single nucleotide variant (intron variant)	Polycystic kidney disease 4 +1 more	GPathogenic
Select item 1804983	NM_138694.4(PKHD1):c.5358C>G (p.Ser1786Arg)	PKHD1 (S1786R)	Single nucleotide variant (missense variant)	Polycystic kidney disease 4	GUncertain significance
Select item 632490	NM_138694.4(PKHD1):c.5236G>C (p.Gly1746Arg)	LOC126859690, PKHD1 (G1746R)	Single nucleotide variant (missense variant)	Autosomal recessive polycystic kidney disease +1 more	GUncertain significance
Select item 1699265	NM_138694.4(PKHD1):c.5230A>C (p.Asn1744His)	LOC126859690, PKHD1 (N1744H)	Single nucleotide variant (missense variant)	Polycystic kidney disease 4	GLikely pathogenic
Select item 502043	NM_138694.4(PKHD1):c.4871G>A (p.Arg1624Gln)	LOC126859690, PKHD1 (R1624Q)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 458597	NM_138694.4(PKHD1):c.4199C>T (p.Ser1400Leu)	PKHD1 (S1400L)	Single nucleotide variant (missense variant)	Polycystic kidney disease 4 +2 more	GConflicting classifications of pathogenicity
Select item 288471	NM_138694.4(PKHD1):c.4009G>A (p.Asp1337Asn)	PKHD1 (D1337N)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 96398	NM_138694.4(PKHD1):c.3761_3762delinsG (p.Ala1254fs)	PKHD1 (A1254fs)	Indel	Polycystic kidney disease 4 +3 more	GPathogenic
Select item 911293	NM_138694.4(PKHD1):c.3373A>G (p.Thr1125Ala)	PKHD1 (T1125A)	Single nucleotide variant (missense variant)	Polycystic kidney disease 4 +2 more	GUncertain significance
Select item 434016	NM_138694.4(PKHD1):c.2948G>A (p.Cys983Tyr)	PKHD1 (C983Y)	Single nucleotide variant (missense variant)	Polycystic kidney disease 4	GUncertain significance
Select item 553118	NM_138694.4(PKHD1):c.2936C>T (p.Thr979Ile)	PKHD1 (T979I)	Single nucleotide variant (missense variant)	Polycystic kidney disease 4 +1 more	GConflicting classifications of pathogenicity
Select item 1802078	NM_138694.4(PKHD1):c.2770C>T (p.Gln924Ter)	PKHD1 (Q924*)	Single nucleotide variant (nonsense)	Polycystic kidney disease 4 +1 more	GPathogenic
Select item 632491	NM_138694.4(PKHD1):c.2507T>C (p.Val836Ala)	PKHD1 (V836A)	Single nucleotide variant (missense variant)	Polycystic kidney disease 4 +2 more	GPathogenic/Likely pathogenic
Select item 96387	NM_138694.4(PKHD1):c.2341C>T (p.Arg781Ter)	PKHD1 (R781*)	Single nucleotide variant (nonsense)	Polycystic kidney disease 4 +2 more	GPathogenic
Select item 370586	NM_138694.4(PKHD1):c.2192C>A (p.Ser731Ter)	PKHD1 (S731*)	Single nucleotide variant (nonsense)	Autosomal recessive polycystic kidney disease +1 more	GPathogenic/Likely pathogenic
Select item 1805432	NM_138694.4(PKHD1):c.2179A>G (p.Asn727Asp)	PKHD1 (N727D)	Single nucleotide variant (missense variant)	Polycystic kidney disease 4	GUncertain significance
Select item 195701	NM_138694.4(PKHD1):c.2167C>T (p.Arg723Cys)	PKHD1 (R723C)	Single nucleotide variant (missense variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 917672	NM_138694.4(PKHD1):c.1690C>T (p.Arg564Ter)	PKHD1 (R564*)	Single nucleotide variant (nonsense)	Polycystic kidney disease 4 +1 more	GPathogenic
Select item 96379	NM_138694.4(PKHD1):c.1602+1G>A	PKHD1	Single nucleotide variant (splice donor variant)	Polycystic kidney disease 4 +1 more	GPathogenic/Likely pathogenic
Select item 1805023	NM_138694.4(PKHD1):c.1166C>T (p.Thr389Ile)	PKHD1 (T389I)	Single nucleotide variant (missense variant)	Polycystic kidney disease 4	GUncertain significance
Select item 1805223	NM_138694.4(PKHD1):c.977-2A>G	PKHD1	Single nucleotide variant (splice acceptor variant)	Polycystic kidney disease 4	GLikely pathogenic
Select item 96442	NM_138694.4(PKHD1):c.930del (p.Thr311fs)	PKHD1 (T311fs)	Deletion (frameshift variant)	not provided +2 more	GPathogenic
Select item 1805129	NM_138694.4(PKHD1):c.712A>G (p.Met238Val)	PKHD1 (M238V)	Single nucleotide variant (missense variant)	Polycystic kidney disease 4 +1 more	GUncertain significance
Select item 406891	NM_138694.4(PKHD1):c.664A>G (p.Ile222Val)	PKHD1 (I222V)	Single nucleotide variant (missense variant)	See cases +4 more	GPathogenic/Likely pathogenic
Select item 1805283	NM_138694.4(PKHD1):c.619G>T (p.Asp207Tyr)	PKHD1 (D207Y)	Single nucleotide variant (missense variant)	Polycystic kidney disease 4	GUncertain significance
Select item 1805285	NM_138694.4(PKHD1):c.528-2A>G	PKHD1	Single nucleotide variant (splice acceptor variant)	Polycystic kidney disease 4	GPathogenic
Select item 96397	NM_138694.4(PKHD1):c.353del (p.Ser118fs)	PKHD1 (S118fs)	Deletion (frameshift variant)	Polycystic kidney disease 4 +2 more	GPathogenic/Likely pathogenic
Select item 286684	NM_138694.4(PKHD1):c.274C>T (p.Arg92Trp)	PKHD1 (R92W)	Single nucleotide variant (missense variant)	Polycystic kidney disease 4 +3 more	GConflicting classifications of pathogenicity
Select item 1805284	NM_138694.4(PKHD1):c.166T>C (p.Ser56Pro)	PKHD1 (S56P)	Single nucleotide variant (missense variant)	Polycystic kidney disease 4	GUncertain significance
Select item 4108	NM_138694.4(PKHD1):c.107C>T (p.Thr36Met)	PKHD1 (T36M)	Single nucleotide variant (missense variant)	Polycystic kidney disease +8 more	GPathogenic/Likely pathogenic
Select item 6821	NM_007373.4(SHOC2):c.4A>G (p.Ser2Gly)	SHOC2 (S2G)	Single nucleotide variant (missense variant)	Noonan syndrome-like disorder with loose anagen hair 1	GPathogenic FDA Recognized database

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Items: 57