168507[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 146075	GRCh38/hg38 7p22.3-q36.3(chr7:54185-159282390)x1	LOC121740684, LOC121740685 +4735 more	Copy number loss	See cases	GPathogenic
Select item 59680	GRCh38/hg38 7p14.3-q11.21(chr7:33328312-62377476)x3	LOC129389795, LOC129389796 +636 more	Copy number gain	See cases	GPathogenic
Select item 148053	GRCh38/hg38 7p14.1-12.3(chr7:37303478-48660738)x1	LOC121175342, LOC121740678 +380 more	Copy number loss	See cases	GPathogenic
Select item 147754	GRCh38/hg38 7p14.1-12.1(chr7:40020598-50543500)x1	ABCA13, ADCY1 +317 more	Copy number loss	See cases	GPathogenic
Select item 146855	GRCh38/hg38 7p14.1-11.2(chr7:40534157-56107122)x1	ABCA13, ADCY1 +426 more	Copy number loss	See cases	GPathogenic
Select item 145645	GRCh38/hg38 7p13-12.1(chr7:44571949-53699760)x1	ABCA13, ADCY1 +200 more	Copy number loss	See cases	GPathogenic
Select item 1179665	NM_138295.5(PKD1L1):c.*212C>T	PKD1L1	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
Select item 1233358	NM_138295.5(PKD1L1):c.8527-165A>G	PKD1L1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2297951	NM_138295.5(PKD1L1):c.8497G>A (p.Val2833Met)	PKD1L1 (V2833M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2493951	NM_138295.5(PKD1L1):c.8489G>A (p.Ser2830Asn)	PKD1L1 (S2830N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1922086	NM_138295.5(PKD1L1):c.8460C>T (p.Asn2820=)	PKD1L1	Single nucleotide variant (synonymous variant)	PKD1L1-related disorder +1 more	GLikely benign
Select item 1702764	NM_138295.5(PKD1L1):c.8452dup (p.Thr2818fs)	PKD1L1 (T2818fs)	Duplication (frameshift variant)	not provided	GUncertain significance
Select item 1027707	NM_138295.5(PKD1L1):c.8438C>T (p.Pro2813Leu)	PKD1L1 (P2813L)	Single nucleotide variant (missense variant)	Heterotaxy, visceral, 8, autosomal	GUncertain significance
Select item 757820	NM_138295.5(PKD1L1):c.8436C>A (p.Leu2812=)	PKD1L1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2088341	NM_138295.5(PKD1L1):c.8429T>G (p.Leu2810Arg)	PKD1L1 (L2810R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3032023	NM_138295.5(PKD1L1):c.8421C>T (p.Ser2807=)	PKD1L1	Single nucleotide variant (synonymous variant)	PKD1L1-related disorder	GLikely benign
Select item 1927109	NM_138295.5(PKD1L1):c.8413G>C (p.Gly2805Arg)	PKD1L1 (G2805R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 726413	NM_138295.5(PKD1L1):c.8374T>C (p.Phe2792Leu)	PKD1L1 (F2792L)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2894696	NM_138295.5(PKD1L1):c.8355C>T (p.His2785=)	PKD1L1, PKD1L1-AS1	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 2628881	NM_138295.5(PKD1L1):c.8342T>C (p.Met2781Thr)	PKD1L1, PKD1L1-AS1 (M2781T)	Single nucleotide variant (missense variant)	PKD1L1-related disorder	GUncertain significance
Select item 2395887	NM_138295.5(PKD1L1):c.8325G>T (p.Lys2775Asn)	PKD1L1, PKD1L1-AS1 (K2775N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2404218	NM_138295.5(PKD1L1):c.8246A>C (p.Lys2749Thr)	PKD1L1, PKD1L1-AS1 (K2749T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2737662	NM_138295.5(PKD1L1):c.8209A>G (p.Met2737Val)	PKD1L1, PKD1L1-AS1 (M2737V)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 3031020	NM_138295.5(PKD1L1):c.8194-3T>C	PKD1L1, PKD1L1-AS1	Single nucleotide variant (intron variant)	PKD1L1-related disorder	GLikely benign
Select item 1276259	NM_138295.5(PKD1L1):c.8194-66C>T	PKD1L1, PKD1L1-AS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1243978	NM_138295.5(PKD1L1):c.8193+163G>A	PKD1L1, PKD1L1-AS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1242692	NM_138295.5(PKD1L1):c.8193+146C>T	PKD1L1, PKD1L1-AS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2223269	NM_138295.5(PKD1L1):c.8144G>T (p.Cys2715Phe)	PKD1L1, PKD1L1-AS1 (C2715F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3015739	NM_138295.5(PKD1L1):c.8138T>C (p.Met2713Thr)	PKD1L1, PKD1L1-AS1 (M2713T)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 3047406	NM_138295.5(PKD1L1):c.8133G>T (p.Arg2711=)	PKD1L1, PKD1L1-AS1	Single nucleotide variant (synonymous variant)	PKD1L1-related disorder	GLikely benign
Select item 3057623	NM_138295.5(PKD1L1):c.8132G>A (p.Arg2711Gln)	PKD1L1, PKD1L1-AS1 (R2711Q)	Single nucleotide variant (missense variant)	PKD1L1-related disorder +1 more	GUncertain significance
Select item 2574525	NM_138295.5(PKD1L1):c.8131C>T (p.Arg2711Trp)	PKD1L1, PKD1L1-AS1 (R2711W)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2027216	NM_138295.5(PKD1L1):c.8130G>C (p.Gln2710His)	PKD1L1, PKD1L1-AS1 (Q2710H)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 2545682	NM_138295.5(PKD1L1):c.8123C>G (p.Ser2708Cys)	PKD1L1-AS1, PKD1L1 (S2708C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3075706	NM_138295.5(PKD1L1):c.8096_8105del (p.Lys2699fs)	PKD1L1, PKD1L1-AS1 (K2699fs)	Deletion (frameshift variant)	Heterotaxy, visceral, 8, autosomal	GPathogenic
Select item 3213573	NM_138295.5(PKD1L1):c.8104C>T (p.Leu2702Phe)	PKD1L1, PKD1L1-AS1 (L2702F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2066496	NM_138295.5(PKD1L1):c.8103C>A (p.Cys2701Ter)	PKD1L1, PKD1L1-AS1 (C2701*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 3213572	NM_138295.5(PKD1L1):c.8062G>A (p.Gly2688Arg)	PKD1L1, PKD1L1-AS1 (G2688R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2182818	NM_138295.5(PKD1L1):c.8061C>T (p.Pro2687=)	PKD1L1, PKD1L1-AS1	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 2434873	NM_138295.5(PKD1L1):c.8059C>T (p.Pro2687Ser)	PKD1L1, PKD1L1-AS1 (P2687S)	Single nucleotide variant (missense variant)	Heterotaxy, visceral, 8, autosomal	GUncertain significance
Select item 1262863	NM_138295.5(PKD1L1):c.8053G>A (p.Ala2685Thr)	PKD1L1, PKD1L1-AS1 (A2685T)	Single nucleotide variant (missense variant)	Heterotaxy, visceral, 8, autosomal +1 more	GBenign
Select item 3054792	NM_138295.5(PKD1L1):c.8052C>T (p.Asp2684=)	PKD1L1, PKD1L1-AS1	Single nucleotide variant (synonymous variant)	PKD1L1-related disorder	GLikely benign
Select item 3054094	NM_138295.5(PKD1L1):c.8048C>G (p.Thr2683Arg)	PKD1L1, PKD1L1-AS1 (T2683R)	Single nucleotide variant (missense variant)	PKD1L1-related disorder	GLikely benign
Select item 2306214	NM_138295.5(PKD1L1):c.8025G>T (p.Trp2675Cys)	PKD1L1, PKD1L1-AS1 (W2675C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2533262	NM_138295.5(PKD1L1):c.8018C>T (p.Ser2673Phe)	PKD1L1, PKD1L1-AS1 (S2673F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2524125	NM_138295.5(PKD1L1):c.8006G>A (p.Arg2669Gln)	PKD1L1, PKD1L1-AS1 (R2669Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1686969	NM_138295.5(PKD1L1):c.8005C>T (p.Arg2669Ter)	PKD1L1, PKD1L1-AS1 (R2669*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 2591531	NM_138295.5(PKD1L1):c.7990C>G (p.Leu2664Val)	PKD1L1, PKD1L1-AS1 (L2664V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2744352	NM_138295.5(PKD1L1):c.7986C>T (p.Ala2662=)	PKD1L1, PKD1L1-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2214608	NM_138295.5(PKD1L1):c.7966G>T (p.Val2656Leu)	PKD1L1, PKD1L1-AS1 (V2656L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1263218	NM_138295.5(PKD1L1):c.7963-33A>G	PKD1L1, PKD1L1-AS1	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1245529	NM_138295.5(PKD1L1):c.7963-212G>T	PKD1L1, PKD1L1-AS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1276803	NM_138295.5(PKD1L1):c.7962+58_7962+59insTT	PKD1L1, PKD1L1-AS1	Insertion (intron variant)	not provided	GBenign
Select item 2065301	NM_138295.5(PKD1L1):c.7937C>G (p.Ser2646Ter)	PKD1L1-AS1, PKD1L1 (S2646*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 3051206	NM_138295.5(PKD1L1):c.7935C>T (p.His2645=)	PKD1L1, PKD1L1-AS1	Single nucleotide variant (synonymous variant)	PKD1L1-related disorder	GLikely benign
Select item 2629222	NM_138295.5(PKD1L1):c.7916G>C (p.Cys2639Ser)	PKD1L1, PKD1L1-AS1 (C2639S)	Single nucleotide variant (missense variant)	PKD1L1-related disorder +1 more	GUncertain significance
Select item 2338989	NM_138295.5(PKD1L1):c.7894A>G (p.Ile2632Val)	PKD1L1, PKD1L1-AS1 (I2632V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3057449	NM_138295.5(PKD1L1):c.7878C>T (p.Cys2626=)	PKD1L1, PKD1L1-AS1	Single nucleotide variant (synonymous variant)	PKD1L1-related disorder	GLikely benign
Select item 2043891	NM_138295.5(PKD1L1):c.7876T>C (p.Cys2626Arg)	PKD1L1, PKD1L1-AS1 (C2626R)	Single nucleotide variant (missense variant)	PKD1L1-related disorder +2 more	GConflicting classifications of pathogenicity
Select item 2462584	NM_138295.5(PKD1L1):c.7844G>A (p.Arg2615Gln)	PKD1L1, PKD1L1-AS1 (R2615Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2629252	NM_138295.5(PKD1L1):c.7838G>A (p.Trp2613Ter)	PKD1L1, PKD1L1-AS1 (W2613*)	Single nucleotide variant (nonsense)	PKD1L1-related disorder	GLikely pathogenic
Select item 729322	NM_138295.5(PKD1L1):c.7828-3C>T	PKD1L1, PKD1L1-AS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1227524	NM_138295.5(PKD1L1):c.7827+166C>T	PKD1L1, PKD1L1-AS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1229206	NM_138295.5(PKD1L1):c.7827+94C>T	PKD1L1, PKD1L1-AS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 708345	NM_138295.5(PKD1L1):c.7827+6C>T	PKD1L1-AS1, PKD1L1	Single nucleotide variant (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 3075968	NM_138295.5(PKD1L1):c.7825C>T (p.Gln2609Ter)	PKD1L1, PKD1L1-AS1 (Q2609*)	Single nucleotide variant (nonsense)	Situs inversus	GLikely pathogenic
Select item 2657456	NM_138295.5(PKD1L1):c.7809T>G (p.Leu2603=)	PKD1L1, PKD1L1-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 792075	NM_138295.5(PKD1L1):c.7807C>T (p.Leu2603Phe)	PKD1L1, PKD1L1-AS1 (L2603F)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 1328049	NM_138295.5(PKD1L1):c.7795A>G (p.Met2599Val)	PKD1L1, PKD1L1-AS1 (M2599V)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GLikely benign
Select item 2860732	NM_138295.5(PKD1L1):c.7787G>T (p.Arg2596Leu)	PKD1L1, PKD1L1-AS1 (R2596L)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2538154	NM_138295.5(PKD1L1):c.7730G>A (p.Gly2577Asp)	PKD1L1, PKD1L1-AS1 (G2577D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2359271	NM_138295.5(PKD1L1):c.7729G>A (p.Gly2577Ser)	PKD1L1, PKD1L1-AS1 (G2577S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3036758	NM_138295.5(PKD1L1):c.7728C>A (p.Ser2576=)	PKD1L1, PKD1L1-AS1	Single nucleotide variant (synonymous variant)	PKD1L1-related disorder	GLikely benign
Select item 3007364	NM_138295.5(PKD1L1):c.7728C>T (p.Ser2576=)	PKD1L1, PKD1L1-AS1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2283428	NM_138295.5(PKD1L1):c.7718A>G (p.Tyr2573Cys)	PKD1L1, PKD1L1-AS1 (Y2573C)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 3040302	NM_138295.5(PKD1L1):c.7706G>C (p.Ser2569Thr)	PKD1L1, PKD1L1-AS1 (S2569T)	Single nucleotide variant (missense variant)	PKD1L1-related disorder	GLikely benign
Select item 2076322	NM_138295.5(PKD1L1):c.7693G>A (p.Val2565Met)	PKD1L1, PKD1L1-AS1 (V2565M)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2636016	NM_138295.5(PKD1L1):c.7687-2A>G	PKD1L1, PKD1L1-AS1	Single nucleotide variant (splice acceptor variant)	PKD1L1-related disorder	GLikely pathogenic
Select item 3032950	NM_138295.5(PKD1L1):c.7687-10G>C	PKD1L1, PKD1L1-AS1	Single nucleotide variant (intron variant)	PKD1L1-related disorder	GLikely benign
Select item 1269293	NM_138295.5(PKD1L1):c.7687-133G>C	PKD1L1, PKD1L1-AS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1222177	NM_138295.5(PKD1L1):c.7686+236T>A	PKD1L1, PKD1L1-AS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1270888	NM_138295.5(PKD1L1):c.7686+203G>A	PKD1L1, PKD1L1-AS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1308445	NM_138295.5(PKD1L1):c.7663C>T (p.Arg2555Ter)	PKD1L1, PKD1L1-AS1 (R2555*)	Single nucleotide variant (nonsense)	PKD1L1-related disorder +1 more	GPathogenic
Select item 2401502	NM_138295.5(PKD1L1):c.7648G>A (p.Val2550Ile)	PKD1L1, PKD1L1-AS1 (V2550I)	Single nucleotide variant (missense variant)	PKD1L1-related disorder +1 more	GConflicting classifications of pathogenicity
Select item 3003073	NM_138295.5(PKD1L1):c.7647C>A (p.Gly2549=)	PKD1L1, PKD1L1-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2357517	NM_138295.5(PKD1L1):c.7637T>C (p.Met2546Thr)	PKD1L1, PKD1L1-AS1 (M2546T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2899629	NM_138295.5(PKD1L1):c.7590C>T (p.Phe2530=)	PKD1L1, PKD1L1-AS1	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 2634211	NM_138295.5(PKD1L1):c.7545C>A (p.Ser2515Arg)	PKD1L1, PKD1L1-AS1 (S2515R)	Single nucleotide variant (missense variant)	PKD1L1-related disorder	GUncertain significance
Select item 743268	NM_138295.5(PKD1L1):c.7541G>A (p.Arg2514His)	PKD1L1, PKD1L1-AS1 (R2514H)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2257006	NM_138295.5(PKD1L1):c.7535T>A (p.Ile2512Asn)	PKD1L1, PKD1L1-AS1 (I2512N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3036039	NM_138295.5(PKD1L1):c.7519G>A (p.Val2507Met)	PKD1L1, PKD1L1-AS1 (V2507M)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2522460	NM_138295.5(PKD1L1):c.7508C>T (p.Pro2503Leu)	PKD1L1, PKD1L1-AS1 (P2503L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3032408	NM_138295.5(PKD1L1):c.7467G>T (p.Val2489=)	PKD1L1, PKD1L1-AS1	Single nucleotide variant (synonymous variant)	PKD1L1-related disorder	GLikely benign
Select item 3032611	NM_138295.5(PKD1L1):c.7452A>G (p.Gln2484=)	PKD1L1, PKD1L1-AS1	Single nucleotide variant (synonymous variant)	PKD1L1-related disorder	GLikely benign
Select item 3213569	NM_138295.5(PKD1L1):c.7429A>G (p.Thr2477Ala)	PKD1L1, PKD1L1-AS1 (T2477A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1917256	NM_138295.5(PKD1L1):c.7423C>T (p.His2475Tyr)	PKD1L1-AS1, PKD1L1 (H2475Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1048779	NM_138295.5(PKD1L1):c.7418C>T (p.Ser2473Phe)	PKD1L1, PKD1L1-AS1 (S2473F)	Single nucleotide variant (missense variant)	Heterotaxy, visceral, 8, autosomal +2 more	GLikely benign
Select item 2579412	NM_138295.5(PKD1L1):c.7417T>C (p.Ser2473Pro)	PKD1L1, PKD1L1-AS1 (S2473P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2475359	NM_138295.5(PKD1L1):c.7409G>C (p.Arg2470Thr)	PKD1L1, PKD1L1-AS1 (R2470T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1311846	NM_138295.5(PKD1L1):c.7386C>A (p.Ser2462Arg)	PKD1L1, PKD1L1-AS1 (S2462R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance

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