9411[HGNC] - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 1 to 100 of 361

<< First< Prev

Page of 4

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59110	GRCh38/hg38 19p13.2-13.13(chr19:8831147-13331227)x3	LOC126862863, LOC126862864 +536 more	Copy number gain	See cases	GLikely pathogenic
Select item 59111	GRCh38/hg38 19p13.2-13.12(chr19:10315258-14048994)x3	LOC130063608, LOC130063609 +484 more	Copy number gain	See cases	GPathogenic
Select item 153069	GRCh38/hg38 19p13.2-13.13(chr19:10319474-13777860)x1	ACP5, ANGPTL8 +434 more	Copy number loss	See cases	GPathogenic
Select item 60235	GRCh38/hg38 19p13.2(chr19:11138895-11549951)x3	ANGPTL8, CCDC159 +52 more	Copy number gain	See cases	GUncertain significance
Select item 144406	GRCh38/hg38 19p13.2-q13.31(chr19:11227942-44626354)x3	ABHD8, ACP5 +2135 more	Copy number gain	See cases	GPathogenic
Select item 328161	NM_002743.2(PRKCSH):c.-336G>A	ODAD3, PRKCSH	Single nucleotide variant (intron variant)	Polycystic liver disease 1 +1 more	GBenign
Select item 328162	NM_002743.2(PRKCSH):c.-299_-298CT[1]	ODAD3, PRKCSH	Microsatellite (intron variant)	Polycystic liver disease 1	GLikely benign
Select item 328163	NM_002743.2(PRKCSH):c.-193G>A	ODAD3, PRKCSH	Single nucleotide variant (intron variant)	Polycystic liver disease 1	GUncertain significance
Select item 328164	NM_002743.2(PRKCSH):c.-168G>A	PRKCSH, ODAD3	Single nucleotide variant (intron variant)	Polycystic liver disease 1	GUncertain significance
Select item 328165	NM_001289104.2(PRKCSH):c.-143G>A	ODAD3, PRKCSH	Single nucleotide variant (5 prime UTR variant +1 more)	Polycystic liver disease 1	GLikely benign
Select item 328166	NM_001289104.2(PRKCSH):c.-130C>T	ODAD3, PRKCSH	Single nucleotide variant (5 prime UTR variant +1 more)	not provided +1 more	GBenign
Select item 328167	NM_001289104.2(PRKCSH):c.-119C>G	ODAD3, PRKCSH	Single nucleotide variant (5 prime UTR variant +1 more)	Polycystic liver disease 1	GBenign
Select item 328168	NM_001289104.2(PRKCSH):c.-105T>C	ODAD3, PRKCSH	Single nucleotide variant (5 prime UTR variant +1 more)	Polycystic liver disease 1	GUncertain significance
Select item 1224193	NM_001289104.2(PRKCSH):c.-78+38T>C	ODAD3, PRKCSH (K10E)	Single nucleotide variant (missense variant +1 more)	Primary ciliary dyskinesia 30 +1 more	GBenign
Select item 3040071	NC_000019.10:g.11435780G>A	ODAD3, PRKCSH	Single nucleotide variant (5 prime UTR variant +1 more)	ODAD3-related disorder	GLikely benign
Select item 631808	NM_001289104.2(PRKCSH):c.-77-2A>C	PRKCSH, LOC130063575	Single nucleotide variant (splice acceptor variant)	Polycystic liver disease 1	GUncertain significance
Select item 2167568	NM_001289104.2(PRKCSH):c.12GCT[6] (p.Leu9_Pro10insLeu)	LOC130063575, PRKCSH	Microsatellite (inframe_insertion)	not provided	GUncertain significance
Select item 1652006	NM_001289104.2(PRKCSH):c.12G>C (p.Pro4=)	LOC130063575, PRKCSH	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2994473	NM_001289104.2(PRKCSH):c.15G>A (p.Leu5=)	LOC130063575, PRKCSH	Single nucleotide variant (synonymous variant)	not provided	GLikely 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 2906750	NM_001289104.2(PRKCSH):c.36C>T (p.Cys12=)	LOC130063575, PRKCSH	Single nucleotide variant (synonymous variant)	not provided	GLikely 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 1529457	NM_001289104.2(PRKCSH):c.38G>C (p.Trp13Ser)	LOC130063575, PRKCSH (W13S)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
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 2392941	NM_001289104.2(PRKCSH):c.67G>C (p.Val23Leu)	LOC130063575, PRKCSH (V23L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3218807	NM_001289104.2(PRKCSH):c.71C>T (p.Ser24Phe)	LOC130063575, PRKCSH (S24F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1255538	NM_001289104.2(PRKCSH):c.76_79+4dup	PRKCSH, LOC130063575	Duplication (splice donor variant)	Autosomal dominant polycystic liver disease	GLikely pathogenic
Select item 1066294	NM_001289104.2(PRKCSH):c.79+1G>C	PRKCSH	Single nucleotide variant (splice donor variant)	not provided	GLikely pathogenic
Select item 769958	NM_001289104.2(PRKCSH):c.79+12_79+23dup	PRKCSH	Duplication (intron variant)	not provided	GBenign
Select item 94077	NM_001289104.2(PRKCSH):c.79+10_79+12del	PRKCSH	Microsatellite (intron variant)	not provided +2 more	GBenign
Select item 1912948	NM_001289104.2(PRKCSH):c.80-11G>A	PRKCSH	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1983130	NM_001289104.2(PRKCSH):c.80-8C>T	PRKCSH	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 714881	NM_001289104.2(PRKCSH):c.80-7C>G	PRKCSH	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 328169	NM_001289104.2(PRKCSH):c.82C>T (p.His28Tyr)	PRKCSH (H28Y)	Single nucleotide variant (missense variant)	Polycystic liver disease 1 +2 more	GUncertain significance
Select item 1255688	NM_001289104.2(PRKCSH):c.96T>G (p.Asp32Glu)	PRKCSH (D32E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1529459	NM_001289104.2(PRKCSH):c.112A>G (p.Thr38Ala)	PRKCSH (T38A)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2008610	NM_001289104.2(PRKCSH):c.118C>A (p.Leu40Met)	PRKCSH (L40M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2186286	NM_001289104.2(PRKCSH):c.123C>A (p.Asp41Glu)	PRKCSH (D41E)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2957922	NM_001289104.2(PRKCSH):c.124G>A (p.Gly42Ser)	PRKCSH (G42S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1718436	NM_001289104.2(PRKCSH):c.133A>G (p.Thr45Ala)	PRKCSH (T45A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3038567	NM_001289104.2(PRKCSH):c.156C>T (p.Asn52=)	PRKCSH	Single nucleotide variant (synonymous variant)	PRKCSH-related disorder	GLikely benign
Select item 3218805	NM_001289104.2(PRKCSH):c.172T>G (p.Cys58Gly)	PRKCSH (C58G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 1255678	NM_001289104.2(PRKCSH):c.188A>C (p.Asp63Ala)	PRKCSH (D63A)	Single nucleotide variant (missense variant)	Autosomal dominant polycystic liver disease	GLikely pathogenic
Select item 2489553	NM_001289104.2(PRKCSH):c.190G>A (p.Glu64Lys)	PRKCSH (E64K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1186571	NM_001289104.2(PRKCSH):c.196+129A>C	PRKCSH	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1241649	NM_001289104.2(PRKCSH):c.196+180C>T	PRKCSH	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1188239	NM_001289104.2(PRKCSH):c.197-65G>A	PRKCSH	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1192814	NM_001289104.2(PRKCSH):c.197-23C>A	PRKCSH	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1920265	NM_001289104.2(PRKCSH):c.197-11C>T	PRKCSH	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1964410	NM_001289104.2(PRKCSH):c.197-8C>T	PRKCSH	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2028197	NM_001289104.2(PRKCSH):c.201G>C (p.Thr67=)	PRKCSH	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 13243	NM_001289104.2(PRKCSH):c.215dup (p.Asn72fs)	PRKCSH (N72fs)	Duplication (frameshift variant)	Polycystic liver disease 1	GPathogenic
Select item 2993458	NM_001289104.2(PRKCSH):c.219C>T (p.Gly73=)	PRKCSH	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1255638	NM_001289104.2(PRKCSH):c.228C>G (p.His76Gln)	PRKCSH (H76Q)	Single nucleotide variant (missense variant)	Autosomal dominant polycystic liver disease	GLikely pathogenic
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 2794945	NM_001289104.2(PRKCSH):c.237C>T (p.Asn79=)	PRKCSH	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 2995107	NM_001289104.2(PRKCSH):c.249G>T (p.Lys83Asn)	PRKCSH (K83N)	Single nucleotide variant (missense variant)	not provided	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 2964406	NM_001289104.2(PRKCSH):c.261C>T (p.Ile87=)	PRKCSH	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1691810	NM_002743.3(PRKCSH):c.263C>T (p.Pro88Leu)	PRKCSH (P88L)	Single nucleotide variant	not provided	GUncertain significance
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 2604463	NM_001289104.2(PRKCSH):c.284G>A (p.Gly95Asp)	PRKCSH (G95D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2881698	NM_001289104.2(PRKCSH):c.288T>C (p.Val96=)	PRKCSH	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1806522	NM_001289104.2(PRKCSH):c.292+2dup	PRKCSH	Duplication (splice donor variant)	not provided	GUncertain significance
Select item 13239	NM_001289104.2(PRKCSH):c.292+1G>C	PRKCSH	Single nucleotide variant (splice donor variant)	Polycystic liver disease 1	GPathogenic
Select item 2124407	NM_001289104.2(PRKCSH):c.292+16C>T	PRKCSH	Single nucleotide variant (intron variant)	not provided	GLikely benign
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 1919746	NM_001289104.2(PRKCSH):c.312C>T (p.Asp104=)	PRKCSH	Single nucleotide variant (synonymous variant)	not provided	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 3010156	NM_001289104.2(PRKCSH):c.325G>A (p.Gly109Ser)	PRKCSH (G109S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 328170	NM_001289104.2(PRKCSH):c.327C>T (p.Gly109=)	PRKCSH	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 2481724	NM_001289104.2(PRKCSH):c.335G>A (p.Cys112Tyr)	PRKCSH (C112Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1707932	NM_001289104.2(PRKCSH):c.339G>C (p.Glu113Asp)	PRKCSH (E113D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1617790	NM_001289104.2(PRKCSH):c.345C>T (p.Thr115=)	PRKCSH	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3310007	NM_001289104.2(PRKCSH):c.349A>G (p.Lys117Glu)	PRKCSH (K117E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2070029	NM_001289104.2(PRKCSH):c.349A>C (p.Lys117Gln)	PRKCSH (K117Q)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2732456	NM_001289104.2(PRKCSH):c.350+4C>T	PRKCSH	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2504413	NM_001289104.2(PRKCSH):c.350+5G>A	PRKCSH	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 258794	NM_001289104.2(PRKCSH):c.350+10T>C	PRKCSH	Single nucleotide variant (intron variant)	not provided +2 more	GBenign/Likely benign
Select item 794080	NM_001289104.2(PRKCSH):c.351-10C>T	PRKCSH	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 328171	NM_001289104.2(PRKCSH):c.351-5C>T	PRKCSH	Single nucleotide variant (intron variant)	not provided +1 more	GBenign/Likely benign
Select item 2903582	NM_001289104.2(PRKCSH):c.351-4G>A	PRKCSH	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1435046	NM_001289104.2(PRKCSH):c.353dup (p.Lys119fs)	PRKCSH (K119fs)	Duplication (frameshift variant)	not provided	GPathogenic
Select item 2063505	NM_001289104.2(PRKCSH):c.361C>T (p.Arg121Cys)	PRKCSH (R121C)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1430865	NM_001289104.2(PRKCSH):c.362G>A (p.Arg121His)	PRKCSH (R121H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1255536	NM_001289104.2(PRKCSH):c.362G>T (p.Arg121Leu)	PRKCSH (R121L)	Single nucleotide variant (missense variant)	Autosomal dominant polycystic liver disease	GLikely benign
Select item 1994589	NM_001289104.2(PRKCSH):c.372_375del (p.Arg124fs)	PRKCSH (R124fs)	Microsatellite (frameshift variant)	not provided	GPathogenic
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 2776861	NM_001289104.2(PRKCSH):c.372A>G (p.Arg124=)	PRKCSH	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2761922	NM_001289104.2(PRKCSH):c.388A>C (p.Met130Leu)	PRKCSH (M130L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 328172	NM_001289104.2(PRKCSH):c.393C>T (p.Ala131=)	PRKCSH	Single nucleotide variant (synonymous variant)	Polycystic liver disease 1	GUncertain significance
Select item 328173	NM_001289104.2(PRKCSH):c.404G>T (p.Arg135Leu)	PRKCSH (R135L)	Single nucleotide variant (missense variant)	Polycystic liver disease 1	GUncertain significance
Select item 258795	NM_001289104.2(PRKCSH):c.405C>T (p.Arg135=)	PRKCSH	Single nucleotide variant (synonymous variant)	not specified +1 more	GLikely benign
Select item 283561	NM_001289104.2(PRKCSH):c.416G>A (p.Arg139His)	PRKCSH (R139H)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1255627	NM_001289104.2(PRKCSH):c.430_432delinsAATAAGG (p.Leu144fs)	PRKCSH (L144fs)	Indel (frameshift variant)	Autosomal dominant polycystic liver disease	GPathogenic
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 328174	NM_001289104.2(PRKCSH):c.454C>T (p.Arg152Trp)	PRKCSH (R152W)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1255598	NM_001289104.2(PRKCSH):c.464A>G (p.Lys155Arg)	PRKCSH (K155R)	Single nucleotide variant (missense variant)	Autosomal dominant polycystic liver disease	GLikely pathogenic

<< First< Prev

Page of 4