ClinVar for Gene (Select 168391) - ClinVar - NCBI

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

Links from Gene

Items: 1 to 100 of 144

<< First< Prev

Page of 2

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3352628	NM_145292.4(GALNTL5):c.1201G>A (p.Gly401Ser)	GALNTL5 (G401S)	Single nucleotide variant (missense variant +1 more)	GALNTL5-related disorder	GLikely benign
Select item 3349205	NM_145292.4(GALNTL5):c.593T>C (p.Ile198Thr)	GALNTL5 (I198T)	Single nucleotide variant (missense variant +1 more)	GALNTL5-related disorder	GUncertain significance
Select item 3280663	NM_145292.4(GALNTL5):c.556G>A (p.Asp186Asn)	GALNTL5 (D186N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3280662	NM_145292.4(GALNTL5):c.1241T>C (p.Val414Ala)	GALNTL5 (V414A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3280660	NM_145292.4(GALNTL5):c.395G>A (p.Arg132His)	GALNTL5 (R132H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3245940	NC_000007.13:g.(?_151716711)_(151927426_?)dup	GALNT11, GALNTL5 +1 more	Duplication	not provided	GUncertain significance
Select item 3245939	NC_000007.13:g.(?_151711709)_(151949820_?)dup	GALNT11, GALNTL5 +1 more	Duplication	not provided	GUncertain significance
Select item 3148948	GRCh37/hg19 7q34-36.3(chr7:141690279-159119707)x3	ABCB8, ABCF2 +125 more	Copy number gain	See cases	GPathogenic
Select item 3098250	NM_145292.4(GALNTL5):c.875T>C (p.Met292Thr)	GALNTL5 (M292T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3098249	NM_145292.4(GALNTL5):c.232G>A (p.Ala78Thr)	GALNTL5 (A78T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3098248	NM_145292.4(GALNTL5):c.184C>A (p.Gln62Lys)	GALNTL5 (Q62K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3098247	NM_145292.4(GALNTL5):c.1121G>A (p.Ser374Asn)	GALNTL5 (S374N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3098246	NM_145292.4(GALNTL5):c.1094A>G (p.Gln365Arg)	GALNTL5 (Q365R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3098245	NM_145292.4(GALNTL5):c.1089G>C (p.Lys363Asn)	GALNTL5 (K363N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3062984	GRCh37/hg19 7q33-36.3(chr7:137456457-159119707)x3	ABCB8, ABCF2 +165 more	Copy number gain	not specified	GPathogenic
Select item 3033806	NM_145292.4(GALNTL5):c.228T>C (p.Asp76=)	GALNTL5	Single nucleotide variant (synonymous variant +1 more)	GALNTL5-related disorder	GLikely benign
Select item 2685274	GRCh37/hg19 7q35-36.3(chr7:144940098-159119707)x1	INSIG1, PDIA4 +80 more	Copy number loss	not provided	GPathogenic
Select item 2685272	GRCh37/hg19 7q34-36.3(chr7:142099013-159119707)x1	CLCN1, RHEB +123 more	Copy number loss	not provided	GPathogenic
Select item 2685271	GRCh37/hg19 7q33-36.3(chr7:135639005-159119707)x1	ARHGEF35, KEL +169 more	Copy number loss	not provided	GPathogenic
Select item 2615131	NM_145292.4(GALNTL5):c.95T>A (p.Val32Glu)	GALNTL5 (V32E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2598913	NM_145292.4(GALNTL5):c.37T>A (p.Ser13Thr)	GALNTL5 (S13T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2593101	NM_145292.4(GALNTL5):c.1237C>A (p.Arg413Ser)	GALNTL5 (R413S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2588363	NM_145292.4(GALNTL5):c.1193G>A (p.Arg398Gln)	GALNTL5 (R398Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2583057	GRCh37/hg19 7q34-36.1(chr7:140154317-152551638)x1	NDUFB2, NOBOX +125 more	Copy number loss	not provided	GPathogenic
Select item 2579171	GRCh38/hg38 7q34-36.3(chr7:138620939-159233475)x3	LOC129999716, LOC129999717 +847 more	Copy number gain	Neurodevelopmental disorder	GLikely pathogenic
Select item 2579170	GRCh38/hg38 7q33-36.3(chr7:137463392-159345973)x3	EPHA1-AS1, EPHB6 +888 more	Copy number gain	Neurodevelopmental disorder	GPathogenic
Select item 2473761	NM_145292.4(GALNTL5):c.166A>G (p.Ile56Val)	GALNTL5 (I56V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2469188	NM_145292.4(GALNTL5):c.814G>A (p.Val272Ile)	GALNTL5 (V272I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2427459	NC_000007.13:g.(?_151704892)_(152373164_?)dup	GALNT11, GALNTL5 +2 more	Duplication	not provided	GUncertain significance
Select item 2427458	NC_000007.13:g.(?_150307047)_(152613597_?)del	ABCB8, ABCF2 +31 more	Deletion	not provided	GPathogenic
Select item 2427456	NC_000007.13:g.(?_151664332)_(151842400_?)dup	GALNT11, GALNTL5 +1 more	Duplication	not provided	GUncertain significance
Select item 2427455	NC_000007.13:g.(?_151680051)_(151856177_?)dup	GALNT11, GALNTL5 +1 more	Duplication	not provided	GUncertain significance
Select item 2425238	NC_000007.13:g.(?_150324807)_(152373164_?)dup	ABCB8, ABCF2 +30 more	Duplication	not provided	GUncertain significance
Select item 2425237	NC_000007.13:g.(?_150324807)_(152373164_?)del	ABCB8, ABCF2 +30 more	Deletion	not provided	GPathogenic
Select item 2398388	NM_145292.4(GALNTL5):c.944G>A (p.Arg315His)	GALNTL5 (R315H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2394230	NM_145292.4(GALNTL5):c.661G>C (p.Asp221His)	GALNTL5 (D221H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2393758	NM_145292.4(GALNTL5):c.706T>C (p.Trp236Arg)	GALNTL5 (W236R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2377874	NM_145292.4(GALNTL5):c.1238G>A (p.Arg413His)	GALNTL5 (R413H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2376943	NM_145292.4(GALNTL5):c.689G>T (p.Cys230Phe)	GALNTL5 (C230F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2374941	NM_145292.4(GALNTL5):c.155T>A (p.Val52Glu)	GALNTL5 (V52E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2370963	NM_145292.4(GALNTL5):c.773T>C (p.Val258Ala)	GALNTL5 (V258A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2353987	NM_145292.4(GALNTL5):c.757T>C (p.Cys253Arg)	GALNTL5 (C253R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2349704	NM_145292.4(GALNTL5):c.500A>G (p.Glu167Gly)	GALNTL5 (E167G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2345048	NM_145292.4(GALNTL5):c.538G>A (p.Asp180Asn)	GALNTL5 (D180N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2332769	NM_145292.4(GALNTL5):c.1295T>A (p.Val432Asp)	GALNTL5 (V432D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2300756	NM_145292.4(GALNTL5):c.11C>T (p.Ala4Val)	GALNTL5 (A4V)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2261980	NM_145292.4(GALNTL5):c.295A>C (p.Lys99Gln)	GALNTL5 (K99Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2253889	NM_145292.4(GALNTL5):c.914C>T (p.Pro305Leu)	GALNTL5 (P305L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2251987	NM_145292.4(GALNTL5):c.539A>G (p.Asp180Gly)	GALNTL5 (D180G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2242059	NM_145292.4(GALNTL5):c.121G>A (p.Glu41Lys)	GALNTL5 (E41K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1808403	GRCh37/hg19 7q36.1-36.2(chr7:151581341-153599029)x1	ACTR3B, GALNT11 +3 more	Copy number loss	not provided	GPathogenic
Select item 1807631	GRCh37/hg19 7q36.1-36.2(chr7:151265288-152929871)x3	ACTR3B, GALNT11 +4 more	Copy number gain	not provided	GUncertain significance
Select item 1708459	GRCh37/hg19 7p22.3-q36.3(chr7:56604613-96692931)x1	AASS, ABCA13 +896 more	Copy number loss	See cases	GUncertain significance
Select item 1703560	Single allele	CACNA2D1, CADPS2 +896 more	Complex	Ring chromosome 7	GPathogenic
Select item 1684762	NM_145292.4(GALNTL5):c.764del (p.Leu255fs)	GALNTL5 (L255fs)	Deletion (frameshift variant +1 more)	not specified	GUncertain significance
Select item 1527414	GRCh37/hg19 7q36.1(chr7:151438850-151978522)	GALNTL5, GALNT11 +2 more	Copy number gain	not specified	GUncertain significance
Select item 1527413	GRCh37/hg19 7q36.1(chr7:151428750-152304246)	GALNT11, GALNTL5 +2 more	Copy number gain	not specified	GUncertain significance
Select item 1341986	GRCh37/hg19 7q36.1-36.3(chr7:149062717-159124131)x1	ACTR3C, AGAP3 +65 more	Copy number loss	not provided	GPathogenic
Select item 1341970	GRCh37/hg19 7q35-36.3(chr7:146927174-159128556)x3	CUL1, DNAJB6 +80 more	Copy number gain	not provided	GPathogenic
Select item 1341273	GRCh37/hg19 7q36.1(chr7:151716549-151808146)x1	GALNT11, GALNTL5	Copy number loss	not provided	GUncertain significance
Select item 1341257	GRCh37/hg19 7q33-36.3(chr7:133851002-159119707)x3	ABCB8, ABCF2 +186 more	Copy number gain	not provided	GPathogenic
Select item 1340734	GRCh37/hg19 7q36.1-36.3(chr7:148153261-157543640)x3	ACTR3C, ABCB8 +75 more	Copy number gain	not provided	GPathogenic
Select item 1340055	GRCh37/hg19 7q36.1-36.3(chr7:148695373-159119707)x1	ABCB8, ABCF2 +72 more	Copy number loss	not provided	GPathogenic
Select item 1330211	GRCh37/hg19 7q36.1(chr7:150745923-152373214)x1	ABCF2, AGAP3 +19 more	Copy number loss	Kleefstra syndrome 2	GPathogenic
Select item 1328456	GRCh37/hg19 7q36.1-36.2(chr7:151550461-153195115)x4	ACTR3B, GALNT11 +4 more	Copy number gain	not provided	GUncertain significance
Select item 1027137	NC_000007.13:g.(?_150642453)_(152373165_?)dup	RHEB, SLC4A2 +23 more	Duplication	Long QT syndrome	GUncertain significance
Select item 1008074	NC_000007.13:g.(?_151262800)_(152373170_?)del	GALNT11, GALNTL5 +3 more	Deletion	Lethal congenital glycogen storage disease of heart	GUncertain significance
Select item 996331	NM_145292.4(GALNTL5):c.153dup (p.Val52fs)	GALNTL5 (V52fs)	Duplication (frameshift variant +1 more)	Male infertility	GLikely pathogenic
Select item 979806	GRCh37/hg19 7q36.1(chr7:151428750-151723874)x3	GALNT11, GALNTL5 +1 more	Copy number gain	not provided	GUncertain significance
Select item 978001	NM_145292.4(GALNTL5):c.1256G>C (p.Arg419Pro)	GALNTL5 (R419P)	Single nucleotide variant (missense variant +1 more)	Male infertility	GUncertain significance
Select item 973042	GRCh37/hg19 7q35-36.3(chr7:143107740-156886246)x3	ABCB8, ABCF2 +96 more	Copy number gain	not provided	Gnot provided
Select item 816507	GRCh37/hg19 7q32.3-36.3(chr7:131414604-159126310)x1	ABCB8, ABCF2 +190 more	Copy number loss	See cases	GPathogenic
Select item 815045	GRCh37/hg19 7q35-36.3(chr7:145962558-159119707)x1	NOM1, NOS3 +80 more	Copy number loss	not provided	GPathogenic
Select item 815017	GRCh37/hg19 7q31.1-36.3(chr7:109251060-159119707)x3	CHRM2, KRBA1 +295 more	Copy number gain	not provided	GPathogenic
Select item 778940	NM_145292.4(GALNTL5):c.586G>A (p.Val196Ile)	GALNTL5 (V196I)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign/Likely benign
Select item 770567	NM_145292.4(GALNTL5):c.535+8A>G	GALNTL5	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 769738	NM_145292.4(GALNTL5):c.617G>C (p.Gly206Ala)	GALNTL5 (G206A)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 758261	NM_145292.4(GALNTL5):c.368+1G>C	GALNTL5	Single nucleotide variant (splice donor variant)	not provided	GBenign
Select item 736061	NM_145292.4(GALNTL5):c.896C>T (p.Thr299Ile)	GALNTL5 (T299I)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 712689	NM_145292.4(GALNTL5):c.538G>T (p.Asp180Tyr)	GALNTL5 (D180Y)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 712688	NM_145292.4(GALNTL5):c.428A>G (p.Tyr143Cys)	GALNTL5 (Y143C)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 709241	NM_145292.4(GALNTL5):c.368+9T>C	GALNTL5	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 689226	GRCh37/hg19 7q36.1(chr7:151616311-152218244)x3	GALNT11, GALNTL5 +1 more	Copy number gain	not provided	GUncertain significance
Select item 688878	GRCh37/hg19 7q32.3-36.3(chr7:130592554-159119707)x3	OR2A25, OR2A42 +192 more	Copy number gain	not provided	GPathogenic
Select item 688351	GRCh37/hg19 7q36.1(chr7:151677556-152111868)x3	GALNT11, GALNTL5 +1 more	Copy number gain	not provided	GUncertain significance
Select item 687917	GRCh37/hg19 7q36.1(chr7:151581340-151925635)x4	GALNT11, GALNTL5 +1 more	Copy number gain	not provided	GUncertain significance
Select item 687427	GRCh37/hg19 7p22.3-q36.3(chr7:10365-159119707)x3	PRSS1, PRSS37 +896 more	Copy number gain	not provided	GPathogenic
Select item 686966	GRCh37/hg19 7q36.1-36.2(chr7:151699080-152779856)x3	ACTR3B, GALNT11 +3 more	Copy number gain	not provided	GUncertain significance
Select item 686874	GRCh37/hg19 7q36.1(chr7:149968222-152539376)x3	ABCB8, ABCF2 +40 more	Copy number gain	not provided	GUncertain significance
Select item 685820	GRCh37/hg19 7q36.1(chr7:151605007-152001188)x3	GALNT11, GALNTL5 +1 more	Copy number gain	not provided	GUncertain significance
Select item 625550	GRCh37/hg19 7q32.1-36.3(chr7:128312450-159119220)	ABCB8, ABCF2 +229 more	Copy number gain	not provided	GPathogenic
Select item 563422	GRCh37/hg19 7q22.1-36.3(chr7:98693388-159119707)x3	AASS, ABCB8 +436 more	Copy number gain	not provided	GPathogenic
Select item 563421	GRCh37/hg19 7q34-36.3(chr7:140133025-158982771)x1	ABCB8, ABCF2 +143 more	Copy number loss	not provided	GPathogenic
Select item 443708	GRCh37/hg19 7q36.1-36.3(chr7:151167135-159119707)x1	ACTR3B, CNPY1 +23 more	Copy number loss	See cases	GPathogenic
Select item 443611	GRCh37/hg19 7q36.1-36.2(chr7:151387196-154070094)x1	ACTR3B, GALNT11 +4 more	Copy number loss	See cases	GLikely pathogenic
Select item 442966	GRCh37/hg19 7q33-36.3(chr7:137917376-159119707)x1	ABCB8, ABCF2 +162 more	Copy number loss	See cases	GPathogenic
Select item 442890	GRCh37/hg19 7q36.1(chr7:151665824-152589802)x3	ACTR3B, GALNT11 +3 more	Copy number gain	See cases	GLikely benign
Select item 442834	GRCh37/hg19 7p22.3-q36.3(chr7:43361-159119707)x3	AVL9, AZGP1 +896 more	Copy number gain	See cases	GPathogenic
Select item 442833	GRCh37/hg19 7p22.3-q36.3(chr7:43361-159119707)	MCM7, MDFIC +896 more	Copy number gain	See cases	GPathogenic
Select item 442820	GRCh37/hg19 7q36.1-36.3(chr7:151566053-159119707)x3	ACTR3B, CNPY1 +22 more	Copy number gain	See cases	GPathogenic

<< First< Prev

Page of 2