GALNTL5[gene] and "single gene"[properties] - ClinVar

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

Search results

Items: 45

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Search results

Items: 45