C0022680[trait identifier] AND "Centre for Mendelian Genomics, Univers - ClinVar

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Items: 39

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 220868	NM_153240.5(NPHP3):c.2694-2_2694-1del	NPHP3, NPHP3-ACAD11	Deletion (splice acceptor variant)	NPHP3-related disorder +5 more	GPathogenic/Likely pathogenic
Select item 523401	NM_001378615.1(CC2D2A):c.1149+1G>A	CC2D2A	Single nucleotide variant (splice donor variant)	Joubert syndrome 9 +8 more	GPathogenic/Likely pathogenic
Select item 56312	NM_001378615.1(CC2D2A):c.4179+1del	CC2D2A	Deletion (splice donor variant)	Joubert syndrome 9 +17 more	GPathogenic
Select item 374110	NM_000297.4(PKD2):c.145C>T (p.Gln49Ter)	LOC129992813, PKD2 (Q49*)	Single nucleotide variant (nonsense +1 more)	Polycystic kidney disease	GPathogenic
Select item 373955	NM_000297.4(PKD2):c.357_364delinsTAGGACG (p.Pro120fs)	LOC129992813, PKD2 (P120fs)	Indel (frameshift variant +1 more)	Hypertensive disorder +3 more	GPathogenic
Select item 374198	NM_000297.4(PKD2):c.817_818del (p.Leu273fs)	PKD2 (L273fs)	Microsatellite (frameshift variant +1 more)	Polycystic kidney disease 2 +3 more	GPathogenic
Select item 397507	NM_000297.4(PKD2):c.916C>T (p.Arg306Ter)	PKD2 (R306*)	Single nucleotide variant (nonsense +1 more)	not provided +2 more	GPathogenic
Select item 523354	NM_000297.4(PKD2):c.2284_2287del (p.Tyr762fs)	PKD2 (Y762fs)	Deletion (frameshift variant +1 more)	Polycystic kidney disease +3 more	GPathogenic
Select item 189143	NM_138694.4(PKHD1):c.7916C>A (p.Ser2639Ter)	PKHD1 (S2639*)	Single nucleotide variant (nonsense)	Autosomal recessive polycystic kidney disease +4 more	GPathogenic/Likely pathogenic
Select item 374180	NM_138694.4(PKHD1):c.5081dup (p.Val1695fs)	PKHD1, LOC126859690 (V1695fs)	Duplication (frameshift variant)	Ventricular hypertrophy +2 more	GPathogenic
Select item 188369	NM_138694.4(PKHD1):c.4870C>T (p.Arg1624Trp)	LOC126859690, PKHD1 (R1624W)	Single nucleotide variant (missense variant)	Abnormal intrahepatic bile duct morphology +5 more	GPathogenic/Likely pathogenic
Select item 189110	NM_138694.4(PKHD1):c.2810G>A (p.Trp937Ter)	PKHD1 (W937*)	Single nucleotide variant (nonsense)	Autosomal recessive polycystic kidney disease +3 more	GPathogenic/Likely pathogenic
Select item 374193	NM_138694.4(PKHD1):c.2716-3C>G	PKHD1	Single nucleotide variant (intron variant)	Oligohydramnios +2 more	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 2164	NM_213599.3(ANO5):c.191dup (p.Asn64fs)	ANO5 (N63fs +1 more)	Duplication (frameshift variant)	Autosomal recessive limb-girdle muscular dystrophy type 2L +12 more	GPathogenic/Likely pathogenic
Select item 56739	NM_025114.4(CEP290):c.5493del (p.Ala1832fs)	CEP290 (A1832fs)	Deletion (frameshift variant)	CEP290-related disorder +14 more	GPathogenic
Select item 374210	NM_025114.4(CEP290):c.3104-2A>G	CEP290	Single nucleotide variant (splice acceptor variant)	Bardet-Biedl syndrome 14 +8 more	GPathogenic/Likely pathogenic
Select item 523384	NM_001009944.3(PKD1):c.12035G>A (p.Trp4012Ter)	PKD1 (W4012* +1 more)	Single nucleotide variant (nonsense)	Polycystic kidney disease +3 more	GPathogenic
Select item 523352	NM_001009944.3(PKD1):c.12014A>G (p.Gln4005Arg)	PKD1 (Q4004R +1 more)	Single nucleotide variant (missense variant)	Polycystic kidney disease +3 more	GUncertain significance
Select item 374187	NM_001009944.3(PKD1):c.11524T>C (p.Trp3842Arg)	PKD1, PKD1-AS1 (W3842R +1 more)	Single nucleotide variant (missense variant)	not provided +3 more	GPathogenic/Likely pathogenic
Select item 374097	NM_001009944.3(PKD1):c.8311G>A (p.Glu2771Lys)	PKD1 (E2771K)	Single nucleotide variant (missense variant)	not provided +4 more	GPathogenic/Likely pathogenic
Select item 930958	NM_001009944.3(PKD1):c.7937T>C (p.Ile2646Thr)	PKD1 (I2646T)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 381477	NM_001009944.3(PKD1):c.7636C>T (p.His2546Tyr)	PKD1 (H2546Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases +4 more	GConflicting classifications of pathogenicity
Select item 523389	NM_001009944.3(PKD1):c.7567GAG[1] (p.Glu2524del)	PKD1 (E2524del)	Microsatellite (inframe_deletion)	not provided +5 more	GConflicting classifications of pathogenicity
Select item 257000	NM_001009944.3(PKD1):c.7429C>T (p.Arg2477Cys)	PKD1 (R2477C)	Single nucleotide variant (missense variant)	Narrow chest +5 more	GConflicting classifications of pathogenicity
Select item 523387	NM_001009944.3(PKD1):c.5896GTG[1] (p.Val1967del)	PKD1 (V1967del)	Microsatellite (inframe_deletion)	Polycystic kidney disease +3 more	GPathogenic
Select item 373937	NM_001009944.3(PKD1):c.5086C>T (p.Gln1696Ter)	PKD1 (Q1696*)	Single nucleotide variant (nonsense)	Polycystic kidney disease, adult type	GPathogenic
Select item 374119	NM_001009944.3(PKD1):c.4846G>T (p.Glu1616Ter)	PKD1 (E1616*)	Single nucleotide variant (nonsense)	3-4 toe syndactyly +3 more	GPathogenic/Likely pathogenic
Select item 374206	NM_001009944.3(PKD1):c.3785A>G (p.His1262Arg)	PKD1 (H1262R)	Single nucleotide variant (missense variant)	not specified +2 more	GUncertain significance
Select item 374102	NM_001009944.3(PKD1):c.3520C>T (p.Gln1174Ter)	PKD1 (Q1174*)	Single nucleotide variant (nonsense)	Hypertensive disorder +3 more	GPathogenic
Select item 433952	NM_001009944.3(PKD1):c.2215C>T (p.Arg739Trp)	PKD1 (R739W)	Single nucleotide variant (missense variant)	Polycystic kidney disease +1 more	GPathogenic
Select item 8205	NM_001009944.3(PKD1):c.971G>T (p.Arg324Leu)	PKD1 (R324L)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 448020	NM_001009944.3(PKD1):c.856_862del (p.Ser286_Gly287insTer)	PKD1	Microsatellite (frameshift variant)	Polycystic kidney disease, adult type +2 more	GPathogenic
Select item 523386	NM_001009944.3(PKD1):c.359T>C (p.Ile120Thr)	PKD1 (I120T)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 523385	NM_001009944.3(PKD1):c.226C>T (p.His76Tyr)	PKD1 (H76Y)	Single nucleotide variant (missense variant)	Polycystic kidney disease +12 more	GUncertain significance
Select item 931037	NM_001009944.3(PKD1):c.108del (p.Cys37fs)	PKD1 (C37fs)	Deletion (frameshift variant)	Polycystic kidney disease, adult type	GPathogenic
Select item 523520	NM_017777.4(MKS1):c.1274-3C>T	MKS1	Single nucleotide variant (intron variant)	Polycystic kidney disease +1 more	GUncertain significance
Select item 523524	NM_170784.3(MKKS):c.958_959del (p.Leu320fs)	MKKS (L320fs)	Microsatellite (frameshift variant)	Bardet-Biedl syndrome +3 more	GPathogenic/Likely pathogenic
Select item 523523	NM_018486.3(HDAC8):c.584T>G (p.Val195Gly)	HDAC8 (V195G +1 more)	Single nucleotide variant (missense variant +2 more)	Polycystic kidney disease +5 more	GLikely pathogenic

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Items: 39