GALNTL5[gene] - ClinVar - NCBI

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

Search results

Items: 1 to 100 of 144

<< First< Prev

Page of 2

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 146075	GRCh38/hg38 7p22.3-q36.3(chr7:54185-159282390)x1	CUL1, CUX1 +4737 more	Copy number loss	See cases	GPathogenic
Select item 147547	GRCh38/hg38 7q21.3-36.3(chr7:97419852-158923762)x3	LOC123956257, LOC123956258 +2213 more	Copy number gain	See cases	GPathogenic
Select item 152912	GRCh38/hg38 7q31.2-36.3(chr7:115459015-159325817)x3	AASS, ABCB8 +1547 more	Copy number gain	See cases	GPathogenic
Select item 149905	GRCh38/hg38 7q31.32-36.3(chr7:121863759-159335865)x3	AASS, ABCB8 +1380 more	Copy number gain	See cases	GPathogenic
Select item 57215	GRCh38/hg38 7q32.1-36.3(chr7:129310166-159282390)x3	ABCB8, ABCF2 +1176 more	Copy number gain	See cases	GPathogenic
Select item 155687	GRCh38/hg38 7q32.3-36.3(chr7:131171478-159327017)x3	PRKAG2, PRKAG2-AS1 +1052 more	Copy number gain	See cases	GPathogenic
Select item 154735	GRCh38/hg38 7q32.3-36.3(chr7:131228764-159335866)x3	LOC129389895, LOC129389896 +1046 more	Copy number gain	See cases	GPathogenic
Select item 155640	GRCh38/hg38 7q32.3-36.3(chr7:132438072-159327017)x3	TRBV27, TRBV28 +1025 more	Copy number gain	See cases	GPathogenic
Select item 150858	GRCh38/hg38 7q32.3-36.3(chr7:132444095-159335866)x3	OR2A2, OR2A25 +1025 more	Copy number gain	See cases	GPathogenic
Select item 57401	GRCh38/hg38 7q32.3-36.3(chr7:132850196-159325876)x3	TRC-GCA9-3, TRC-GCA9-4 +1019 more	Copy number gain	See cases	GPathogenic
Select item 149061	GRCh38/hg38 7q33-36.3(chr7:134666829-158591882)x1	LOC129999635, LOC129999636 +944 more	Copy number loss	See cases	GPathogenic
Select item 59716	GRCh38/hg38 7q33-36.3(chr7:136309982-159307523)x3	ABCB8, ABCF2 +908 more	Copy number gain	See cases	GPathogenic
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 147398	GRCh38/hg38 7q33-36.2(chr7:137751200-154815582)x3	ABCB8, ABCF2 +692 more	Copy number gain	See cases	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 60300	GRCh38/hg38 7q34-36.3(chr7:140754198-159307523)x1	ABCB8, ABCF2 +737 more	Copy number loss	See cases	GPathogenic
Select item 148181	GRCh38/hg38 7q34-36.3(chr7:141960861-159335866)x1	LOC129999721, LOC129999722 +707 more	Copy number loss	See cases	GPathogenic
Select item 60302	GRCh38/hg38 7q35-36.3(chr7:143884559-159282390)x1	LOC129999681, LOC129999682 +573 more	Copy number loss	See cases	GPathogenic
Select item 57118	GRCh38/hg38 7q35-36.1(chr7:143884559-152674271)x1	ABCB8, ABCF2 +358 more	Copy number loss	See cases	GPathogenic
Select item 148943	GRCh38/hg38 7q35-36.3(chr7:145250254-159335866)x1	ABCB8, ABCF2 +540 more	Copy number loss	See cases	GPathogenic
Select item 148263	GRCh38/hg38 7q35-36.3(chr7:145436544-159331441)x1	LOC129999684, LOC129999685 +538 more	Copy number loss	See cases	GLikely pathogenic
Select item 60312	GRCh38/hg38 7q35-36.3(chr7:145699944-159296617)x1	LOC129999655, LOC129999656 +533 more	Copy number loss	See cases	GPathogenic
Select item 148715	GRCh38/hg38 7q35-36.3(chr7:146047157-157522158)x1	ABCB8, ABCF2 +473 more	Copy number loss	See cases	GPathogenic
Select item 155436	GRCh38/hg38 7q35-36.3(chr7:147144002-159327017)x1	UBE3C, VIPR2 +526 more	Copy number loss	See cases	GPathogenic
Select item 57408	GRCh38/hg38 7q35-36.3(chr7:147250465-159325876)x1	ABCB8, ABCF2 +526 more	Copy number loss	See cases	GPathogenic
Select item 146558	GRCh38/hg38 7q35-36.2(chr7:147345844-153833351)x3	ABCB8, ABCF2 +329 more	Copy number gain	See cases	GPathogenic
Select item 60313	GRCh38/hg38 7q36.1(chr7:148256584-152332535)x1	ABCB8, ABCF2 +293 more	Copy number loss	See cases	GPathogenic
Select item 149569	GRCh38/hg38 7q36.1-36.2(chr7:150113232-154162779)x3	ABCB8, ABCF2 +212 more	Copy number gain	See cases	GLikely pathogenic
Select item 154525	GRCh38/hg38 7q36.1-36.3(chr7:150260297-159325876)x1	ABCB8, ABCF2 +407 more	Copy number loss	See cases	GPathogenic
Select item 150864	GRCh38/hg38 7q36.1-36.2(chr7:150275734-153342804)x3	ABCB8, ABCF2 +205 more	Copy number gain	See cases	GUncertain significance
Select item 57001	GRCh38/hg38 7q36.1(chr7:150319864-152674271)x1	ABCB8, ABCF2 +191 more	Copy number loss	See cases	GPathogenic
Select item 146852	GRCh38/hg38 7q36.1-36.3(chr7:150486071-159335865)x1	ABCB8, ABCF2 +375 more	Copy number loss	See cases	GPathogenic
Select item 148391	GRCh38/hg38 7q36.1-36.3(chr7:150802801-159335866)x1	ABCB8, ABCF2 +351 more	Copy number loss	See cases	GPathogenic
Select item 147505	GRCh38/hg38 7q36.1-36.3(chr7:151104277-159325876)x3	ABCF2, ABCF2-H2BK1 +315 more	Copy number gain	See cases	GPathogenic
Select item 145486	GRCh38/hg38 7q36.1-36.2(chr7:151214163-153187462)x1	ABCF2, ABCF2-H2BK1 +98 more	Copy number loss	See cases	GPathogenic
Select item 146896	GRCh38/hg38 7q36.1-36.3(chr7:151378879-158923762)x1	LOC129389944, LOC129389945 +271 more	Copy number loss	See cases	GPathogenic
Select item 154377	GRCh38/hg38 7q36.1-36.2(chr7:151424353-153358923)x1	ACTR3B, CRYGN +77 more	Copy number loss	See cases	GUncertain significance
Select item 155553	GRCh38/hg38 7q36.1(chr7:151843296-152652302)x3	GALNT11, GALNTL5 +30 more	Copy number gain	See cases	GLikely benign
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 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 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 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 996331	NM_145292.4(GALNTL5):c.153dup (p.Val52fs)	GALNTL5 (V52fs)	Duplication (frameshift variant +1 more)	Male infertility	GLikely pathogenic
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 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 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 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 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 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 758261	NM_145292.4(GALNTL5):c.368+1G>C	GALNTL5	Single nucleotide variant (splice donor variant)	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 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 712688	NM_145292.4(GALNTL5):c.428A>G (p.Tyr143Cys)	GALNTL5 (Y143C)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
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 770567	NM_145292.4(GALNTL5):c.535+8A>G	GALNTL5	Single nucleotide variant (intron variant)	not provided	GBenign
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 712689	NM_145292.4(GALNTL5):c.538G>T (p.Asp180Tyr)	GALNTL5 (D180Y)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
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 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 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 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 769738	NM_145292.4(GALNTL5):c.617G>C (p.Gly206Ala)	GALNTL5 (G206A)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
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 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 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 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 1684762	NM_145292.4(GALNTL5):c.764del (p.Leu255fs)	GALNTL5 (L255fs)	Deletion (frameshift 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 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 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 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 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 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 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 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 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 154286	GRCh38/hg38 7q36.1(chr7:152019464-152555911)x3	GALNT11, GALNTL5 +18 more	Copy number gain	See cases	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 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 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 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 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 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 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 145890	GRCh38/hg38 7q36.1(chr7:152019833-152239007)x3	GALNT11, GALNTL5 +6 more	Copy number gain	See cases	GLikely benign
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 3062984	GRCh37/hg19 7q33-36.3(chr7:137456457-159119707)x3	ABCB8, ABCF2 +165 more	Copy number gain	not specified	GPathogenic
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 2583057	GRCh37/hg19 7q34-36.1(chr7:140154317-152551638)x1	NDUFB2, NOBOX +125 more	Copy number loss	not provided	GPathogenic
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 1808403	GRCh37/hg19 7q36.1-36.2(chr7:151581341-153599029)x1	ACTR3B, GALNT11 +3 more	Copy number loss	not provided	GPathogenic

<< First< Prev

Page of 2