ClinVar for MedGen (Select 165781) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3254876	NM_001289104.2(PRKCSH):c.1477G>A (p.Gly493Arg)	PRKCSH (G483R +2 more)	Single nucleotide variant (missense variant)	Polycystic liver disease 1	GUncertain significance
Select item 3234974	NM_001289104.2(PRKCSH):c.247_248insT (p.Lys83fs)	PRKCSH (K83fs)	Insertion (frameshift variant)	Polycystic liver disease 1	GLikely pathogenic
Select item 3220939	NM_001289104.2(PRKCSH):c.1462-1G>C	PRKCSH	Single nucleotide variant (splice acceptor variant)	Polycystic liver disease 1	GLikely pathogenic
Select item 2575053	NM_001289104.2(PRKCSH):c.805_845del (p.Tyr269fs)	PRKCSH (Y269fs)	Deletion (frameshift variant)	Polycystic liver disease 1	GLikely pathogenic
Select item 1685413	NM_001289104.2(PRKCSH):c.683+1G>A	PRKCSH	Single nucleotide variant (splice donor variant)	Polycystic liver disease 1	GLikely pathogenic
Select item 1669031	NM_001289104.2(PRKCSH):c.1338C>T (p.Leu446=)	PRKCSH	Single nucleotide variant (synonymous variant)	Polycystic liver disease 1 +1 more	GBenign/Likely benign
Select item 1640028	NM_001289104.2(PRKCSH):c.279C>T (p.Asn93=)	PRKCSH	Single nucleotide variant (synonymous variant)	Polycystic liver disease 1 +1 more	GLikely benign
Select item 1627427	NM_001289104.2(PRKCSH):c.1476C>T (p.Cys492=)	PRKCSH	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 1597372	NM_001289104.2(PRKCSH):c.324C>T (p.Ser108=)	PRKCSH	Single nucleotide variant (synonymous variant)	Polycystic liver disease 1 +1 more	GLikely benign
Select item 1553432	NM_001289104.2(PRKCSH):c.1005C>T (p.Ser335=)	PRKCSH	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 1546933	NM_001289104.2(PRKCSH):c.683+9C>A	PRKCSH	Single nucleotide variant (intron variant)	Polycystic liver disease 1 +1 more	GBenign/Likely benign
Select item 1541333	NM_001289104.2(PRKCSH):c.438G>A (p.Glu146=)	PRKCSH	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 1483452	NM_001289104.2(PRKCSH):c.1099G>A (p.Asp367Asn)	PRKCSH (D357N +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1466436	NM_001289104.2(PRKCSH):c.627G>T (p.Gln209His)	PRKCSH (Q209H)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 1430144	NM_001289104.2(PRKCSH):c.543G>C (p.Glu181Asp)	PRKCSH (E181D)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 1409228	NM_001289104.2(PRKCSH):c.251C>T (p.Pro84Leu)	PRKCSH (P84L)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 1394111	NM_001289104.2(PRKCSH):c.683C>T (p.Thr228Met)	PRKCSH (T228M)	Single nucleotide variant (missense variant)	Polycystic liver disease 1 +1 more	GUncertain significance
Select item 1353128	NM_001289104.2(PRKCSH):c.1283A>C (p.Asn428Thr)	PRKCSH (N421T +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 1255532	NM_001289104.2(PRKCSH):c.841C>T (p.Arg281Trp)	PRKCSH (R281W)	Single nucleotide variant (missense variant)	Polycystic liver disease 1 +1 more	GUncertain significance
Select item 1179126	NM_001289104.2(PRKCSH):c.564_567del (p.Glu189fs)	PRKCSH (E189fs)	Microsatellite (frameshift variant)	Polycystic liver disease 1	GLikely pathogenic
Select item 1048653	NM_001289104.2(PRKCSH):c.374_375del (p.Glu125fs)	PRKCSH (E125fs)	Microsatellite (frameshift variant)	Polycystic liver disease 1 +2 more	GPathogenic
Select item 1019709	NM_002335.4(LRP5):c.4583A>C (p.Tyr1528Ser)	LRP5 (Y1528S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 997260	NM_001009944.3(PKD1):c.6472C>T (p.Gln2158Ter)	PKD1 (Q2158*)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic
Select item 992438	NM_001289104.2(PRKCSH):c.1191dup (p.Ile398fs)	PRKCSH (I388fs +2 more)	Duplication (frameshift variant)	Polycystic liver disease 1	GPathogenic
Select item 992384	NM_001289104.2(PRKCSH):c.300C>A (p.Cys100Ter)	PRKCSH (C100*)	Single nucleotide variant (nonsense)	Polycystic liver disease 1	GLikely pathogenic
Select item 982793	NM_001289104.2(PRKCSH):c.763-41C>T	PRKCSH	Single nucleotide variant (intron variant)	Polycystic liver disease 1	GLikely benign
Select item 892069	NM_001289104.2(PRKCSH):c.1254G>A (p.Leu418=)	PRKCSH	Single nucleotide variant (synonymous variant)	Polycystic liver disease 1	GUncertain significance
Select item 892068	NM_001289104.2(PRKCSH):c.1196+6G>T	PRKCSH	Single nucleotide variant (intron variant)	Polycystic liver disease 1	GUncertain significance
Select item 892021	NM_001289104.2(PRKCSH):c.234C>T (p.Thr78=)	PRKCSH	Single nucleotide variant (synonymous variant)	Polycystic liver disease 1	GUncertain significance
Select item 890872	NM_001289104.2(PRKCSH):c.*329C>A	PRKCSH	Single nucleotide variant (3 prime UTR variant)	Polycystic liver disease 1	GUncertain significance
Select item 890871	NM_001289104.2(PRKCSH):c.*321A>G	PRKCSH	Single nucleotide variant (3 prime UTR variant)	Polycystic liver disease 1	GUncertain significance
Select item 890870	NM_001289104.2(PRKCSH):c.*279G>T	PRKCSH	Single nucleotide variant (3 prime UTR variant)	Polycystic liver disease 1	GUncertain significance
Select item 890869	NM_001289104.2(PRKCSH):c.*249C>T	PRKCSH	Single nucleotide variant (3 prime UTR variant)	Polycystic liver disease 1	GUncertain significance
Select item 890829	NM_001289104.2(PRKCSH):c.969A>G (p.Glu323=)	PRKCSH	Single nucleotide variant (synonymous variant)	Polycystic liver disease 1	GUncertain significance
Select item 890828	NM_001289104.2(PRKCSH):c.888C>T (p.Asp296=)	PRKCSH	Single nucleotide variant (synonymous variant)	Polycystic liver disease 1	GUncertain significance
Select item 890827	NM_001289104.2(PRKCSH):c.862G>A (p.Asp288Asn)	PRKCSH (D288N)	Single nucleotide variant (missense variant)	Polycystic liver disease 1 +2 more	GConflicting classifications of pathogenicity
Select item 890782	NM_001289104.2(PRKCSH):c.176A>G (p.Lys59Arg)	PRKCSH (K59R)	Single nucleotide variant (missense variant)	Polycystic liver disease 1 +1 more	GBenign/Likely benign
Select item 890781	NM_001289104.2(PRKCSH):c.37T>C (p.Trp13Arg)	LOC130063575, PRKCSH (W13R)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely benign
Select item 890780	NM_001289104.2(PRKCSH):c.22C>A (p.Leu8Met)	PRKCSH, LOC130063575 (L8M)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 890310	NM_001289104.2(PRKCSH):c.*106G>A	PRKCSH	Single nucleotide variant (3 prime UTR variant)	Polycystic liver disease 1	GUncertain significance
Select item 890309	NM_001289104.2(PRKCSH):c.*17-12C>G	PRKCSH	Single nucleotide variant (intron variant)	Polycystic liver disease 1	GUncertain significance
Select item 890308	NM_001289104.2(PRKCSH):c.1569G>T (p.Pro523=)	PRKCSH	Single nucleotide variant (synonymous variant)	Polycystic liver disease 1 +1 more	GLikely benign
Select item 890307	NM_001289104.2(PRKCSH):c.1559C>T (p.Pro520Leu)	PRKCSH (P513L +2 more)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 890258	NM_001289104.2(PRKCSH):c.847G>A (p.Glu283Lys)	PRKCSH (E283K)	Single nucleotide variant (missense variant)	Polycystic liver disease 1	GLikely benign
Select item 889615	NM_001289104.2(PRKCSH):c.685G>A (p.Val229Ile)	PRKCSH (V229I)	Single nucleotide variant (missense variant)	Polycystic liver disease 1	GUncertain significance
Select item 889614	NM_001289104.2(PRKCSH):c.678C>T (p.Asp226=)	PRKCSH	Single nucleotide variant (synonymous variant)	Polycystic liver disease 1	GBenign/Likely benign
Select item 888607	NM_001289104.2(PRKCSH):c.1470C>T (p.Leu490=)	PRKCSH	Single nucleotide variant (synonymous variant)	Polycystic liver disease 1	GBenign
Select item 888606	NM_001289104.2(PRKCSH):c.1395C>T (p.Asp465=)	PRKCSH	Single nucleotide variant (synonymous variant)	Polycystic liver disease 1	GUncertain significance
Select item 888605	NM_001289104.2(PRKCSH):c.1291G>A (p.Val431Ile)	PRKCSH (V421I +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GLikely benign
Select item 759358	NM_001289104.2(PRKCSH):c.975G>A (p.Glu325=)	PRKCSH	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 754953	NM_001289104.2(PRKCSH):c.60C>T (p.Pro20=)	LOC130063575, PRKCSH	Single nucleotide variant (synonymous variant)	Polycystic liver disease 1 +1 more	GLikely benign
Select item 742052	NM_001289104.2(PRKCSH):c.1055C>T (p.Pro352Leu)	PRKCSH (P352L +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 636894	NM_001289104.2(PRKCSH):c.762+2T>C	PRKCSH	Single nucleotide variant (splice donor variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 631808	NM_001289104.2(PRKCSH):c.-77-2A>C	LOC130063575, PRKCSH	Single nucleotide variant (splice acceptor variant)	Polycystic liver disease 1	GUncertain significance
Select item 523387	NM_001009944.3(PKD1):c.5896GTG[1] (p.Val1967del)	PKD1 (V1967del)	Microsatellite (inframe_deletion)	Cystic renal dysplasia +3 more	GPathogenic
Select item 523354	NM_000297.4(PKD2):c.2284_2287del (p.Tyr762fs)	PKD2 (Y762fs)	Deletion (frameshift variant +1 more)	Polycystic kidney disease 2 +3 more	GPathogenic
Select item 522188	NM_007214.5(SEC63):c.340-12_340-8del	SEC63	Deletion (intron variant)	Polycystic liver disease 2 +2 more	GBenign/Likely benign
Select item 492970	NM_001289104.2(PRKCSH):c.1416T>G (p.Tyr472Ter)	PRKCSH (Y462* +2 more)	Single nucleotide variant (nonsense)	Polycystic liver disease 1	GPathogenic
Select item 447985	NM_001009944.3(PKD1):c.5014_5015del (p.Arg1672fs)	PKD1 (R1672fs)	Deletion (frameshift variant)	not provided +3 more	GPathogenic
Select item 433952	NM_001009944.3(PKD1):c.2215C>T (p.Arg739Trp)	PKD1 (R739W)	Single nucleotide variant (missense variant)	Polycystic liver disease 1 +1 more	GPathogenic
Select item 373976	NM_000138.5(FBN1):c.7274A>G (p.Tyr2425Cys)	FBN1 (Y2425C)	Single nucleotide variant (missense variant)	Polycystic liver disease 1 +3 more	GLikely pathogenic
Select item 369511	NM_007214.4(SEC63):c.*3959dupT	SEC63	Duplication	Polycystic liver disease 1	GBenign
Select item 354925	NM_007214.4(SEC63):c.-268C>A	SEC63	Single nucleotide variant	Polycystic liver disease 1	GLikely benign
Select item 354924	NM_007214.4(SEC63):c.-264T>C	SEC63	Single nucleotide variant	Polycystic liver disease 1	GLikely benign
Select item 354923	NM_007214.4(SEC63):c.-237C>T	SEC63	Single nucleotide variant	Polycystic liver disease 1	GUncertain significance
Select item 354922	NM_007214.4(SEC63):c.-215G>A	SEC63	Single nucleotide variant	Polycystic liver disease 1	GUncertain significance
Select item 354920	NM_007214.5(SEC63):c.125-13del	SEC63	Deletion (intron variant)	Polycystic liver disease 1 +2 more	GLikely benign
Select item 354916	NM_007214.5(SEC63):c.340-15_340-13del	SEC63	Deletion (intron variant)	Polycystic liver disease 1	GLikely benign
Select item 354915	NM_007214.5(SEC63):c.340-12dup	SEC63	Duplication (intron variant)	Polycystic liver disease 1	GUncertain significance
Select item 354914	NM_007214.5(SEC63):c.340-12_340-10del	SEC63	Deletion (intron variant)	not provided +1 more	GBenign
Select item 354913	NM_007214.5(SEC63):c.340-9_340-7del	SEC63	Deletion (intron variant)	not provided +2 more	GBenign/Likely benign
Select item 354912	NM_007214.5(SEC63):c.340-8_340-7del	SEC63	Deletion (intron variant)	Polycystic liver disease 1 +1 more	GConflicting classifications of pathogenicity
Select item 354911	NM_007214.5(SEC63):c.340-6_340-5dup	SEC63	Duplication (intron variant)	Polycystic liver disease 1	GLikely benign
Select item 354906	NM_007214.5(SEC63):c.1210-7del	SEC63	Deletion (intron variant)	Polycystic liver disease 1 +1 more	GConflicting classifications of pathogenicity
Select item 354903	NM_007214.5(SEC63):c.1625_1626insTAC (p.Pro542_Gln543insThr)	SEC63	Insertion (inframe_insertion)	Polycystic liver disease 1 +1 more	GConflicting classifications of pathogenicity
Select item 354899	NM_007214.5(SEC63):c.1697AAG[2] (p.Glu568del)	SEC63 (E568del)	Microsatellite (inframe_deletion)	Polycystic liver disease 1 +1 more	GConflicting classifications of pathogenicity
Select item 354898	NM_007214.5(SEC63):c.1936-27_1936-26dup	SEC63	Duplication (intron variant)	Polycystic liver disease 1 +1 more	GConflicting classifications of pathogenicity
Select item 354897	NM_007214.5(SEC63):c.1936-7_1936-5dup	SEC63	Duplication (intron variant)	Polycystic liver disease 1	GConflicting classifications of pathogenicity
Select item 354896	NM_007214.5(SEC63):c.1936-7_1936-6dup	SEC63	Duplication (intron variant)	Polycystic liver disease 1	GUncertain significance
Select item 354895	NM_007214.5(SEC63):c.1936-7dup	SEC63	Duplication (intron variant)	Polycystic liver disease 1	GUncertain significance
Select item 354894	NM_007214.5(SEC63):c.1936-4_1936-3insTTT	SEC63	Insertion (intron variant)	Polycystic liver disease 1	GUncertain significance
Select item 354893	NM_007214.5(SEC63):c.1936-4_1936-3insTT	SEC63	Insertion (intron variant)	Polycystic liver disease 1	GLikely benign
Select item 354892	NM_007214.5(SEC63):c.1936-4_1936-3insT	SEC63	Insertion (intron variant)	Polycystic liver disease 1	GUncertain significance
Select item 354875	NM_007214.5(SEC63):c.1113_1115del	SEC63	Deletion (3 prime UTR variant)	Polycystic liver disease 1	GUncertain significance
Select item 354864	NM_007214.5(SEC63):c.*1787GTT[1]	SEC63	Microsatellite (3 prime UTR variant)	Polycystic liver disease 1	GUncertain significance
Select item 354863	NM_007214.5(SEC63):c.1790_1793del	SEC63	Deletion (3 prime UTR variant)	Polycystic liver disease 1	GBenign
Select item 354860	NM_007214.5(SEC63):c.1920_1921insC	SEC63	Insertion (3 prime UTR variant)	Polycystic liver disease 1	GUncertain significance
Select item 354859	NM_007214.5(SEC63):c.1926_1931del	SEC63	Deletion (3 prime UTR variant)	Polycystic liver disease 1	GBenign
Select item 354858	NM_007214.5(SEC63):c.*1931dup	SEC63	Duplication (3 prime UTR variant)	Polycystic liver disease 1	GUncertain significance
Select item 354857	NM_007214.5(SEC63):c.1927_1932del	SEC63	Deletion (3 prime UTR variant)	Polycystic liver disease 1	GUncertain significance
Select item 354856	NM_007214.5(SEC63):c.1932_1933insA	SEC63	Insertion (3 prime UTR variant)	Polycystic liver disease 1	GUncertain significance
Select item 354855	NM_007214.5(SEC63):c.*1936del	SEC63	Deletion (3 prime UTR variant)	Polycystic liver disease 1	GLikely benign
Select item 354854	NM_007214.5(SEC63):c.1932_1937del	SEC63	Deletion (3 prime UTR variant)	Polycystic liver disease 1	GUncertain significance
Select item 354847	NM_007214.5(SEC63):c.*2479dup	SEC63	Duplication (3 prime UTR variant)	Polycystic liver disease 1	GLikely benign
Select item 354846	NM_007214.5(SEC63):c.*2504dup	SEC63	Duplication (3 prime UTR variant)	Polycystic liver disease 1	GBenign
Select item 354835	NM_007214.5(SEC63):c.*3031del	SEC63	Deletion (3 prime UTR variant)	Polycystic liver disease 1	GUncertain significance
Select item 354834	NM_007214.5(SEC63):c.*3031dup	SEC63	Duplication (3 prime UTR variant)	not provided +1 more	GUncertain significance
Select item 354824	NM_007214.5(SEC63):c.*3432dup	SEC63	Duplication (3 prime UTR variant)	Polycystic liver disease 1	GUncertain significance
Select item 354821	NM_007214.5(SEC63):c.*3480del	SEC63	Deletion (3 prime UTR variant)	Polycystic liver disease 1	GBenign
Select item 354820	NM_007214.5(SEC63):c.*3480dup	SEC63	Duplication (3 prime UTR variant)	Polycystic liver disease 1	GUncertain significance

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