"ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories - ClinVar

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

Search results

Items: 55

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 25111	NM_000155.2(GALT):c.-119_-116delGTCA	GALT	Microsatellite	Inborn genetic diseases +3 more	GConflicting classifications of pathogenicity; other
Select item 1331063	NM_000155.4(GALT):c.133T>C (p.Ser45Pro)	GALT, LOC130001683 (S45P)	Single nucleotide variant (missense variant +1 more)	Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase	GLikely pathogenic
Select item 1331081	NM_000155.4(GALT):c.233C>T (p.Ala78Val)	GALT, LOC130001683 (A78V +1 more)	Single nucleotide variant (missense variant)	Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase	GUncertain significance
Select item 1330596	NM_000155.4(GALT):c.241G>C (p.Ala81Pro)	GALT, LOC130001683 (A81P +1 more)	Single nucleotide variant (missense variant)	Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase	GPathogenic/Likely pathogenic
Select item 811178	NM_000155.4(GALT):c.290A>T (p.Asn97Ile)	GALT (N97I)	Single nucleotide variant (missense variant +1 more)	Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase	GLikely pathogenic
Select item 92516	NM_000155.4(GALT):c.291C>T (p.Asn97=)	GALT	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 25148	NM_000155.4(GALT):c.292G>A (p.Asp98Asn)	GALT	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 2428671	NM_000155.4(GALT):c.302C>G (p.Ala101Gly)	GALT (A101G)	Single nucleotide variant (missense variant +1 more)	Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase	GUncertain significance
Select item 25166	NM_000155.4(GALT):c.378-27G>C	GALT	Single nucleotide variant (intron variant)	not specified +2 more	GBenign
Select item 36145	NM_000155.4(GALT):c.385A>T (p.Met129Leu)	GALT (M129L +1 more)	Single nucleotide variant (missense variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 37357	NM_000155.4(GALT):c.394C>T (p.His132Tyr)	GALT (H132Y +1 more)	Single nucleotide variant (missense variant)	Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase	GConflicting classifications of pathogenicity
Select item 25171	NM_000155.4(GALT):c.400del (p.Trp134fs)	GALT (W25fs)	Deletion (frameshift variant)	not provided +1 more	GPathogenic
Select item 3618	NM_000155.4(GALT):c.404C>T (p.Ser135Leu)	GALT (S135L +1 more)	Single nucleotide variant (missense variant)	See cases +3 more	GPathogenic/Likely pathogenic
Select item 281069	NM_000155.4(GALT):c.405G>A (p.Ser135=)	GALT	Single nucleotide variant (synonymous variant)	Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase +1 more	GConflicting classifications of pathogenicity
Select item 37359	NM_000155.4(GALT):c.442C>T (p.Arg148Trp)	GALT (R148W +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic
Select item 25180	NM_000155.4(GALT):c.452T>C (p.Val151Ala)	GALT (V42A)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 36147	NM_000155.4(GALT):c.498T>C (p.Pro166=)	GALT	Single nucleotide variant (synonymous variant)	not specified +2 more	GLikely benign
Select item 25192	NM_000155.4(GALT):c.507+62G>A	GALT	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 25195	NM_000155.4(GALT):c.508-24G>A	GALT	Single nucleotide variant (intron variant)	not provided +2 more	GBenign
Select item 36148	NM_000155.4(GALT):c.508-17G>A	GALT	Single nucleotide variant (intron variant)	not specified +1 more	GBenign
Select item 3616	NM_000155.4(GALT):c.512T>C (p.Phe171Ser)	GALT (F171S +1 more)	Single nucleotide variant (missense variant)	Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase +2 more	GPathogenic/Likely pathogenic
Select item 25203	NM_000155.4(GALT):c.524G>A (p.Gly175Asp)	GALT (G66D)	Single nucleotide variant (missense variant)	not specified +1 more	GPathogenic/Likely pathogenic
Select item 439749	NM_000155.4(GALT):c.556C>A (p.His186Asn)	GALT (H186N +1 more)	Single nucleotide variant (missense variant)	not specified +1 more	GLikely pathogenic
Select item 3614	NM_000155.4(GALT):c.563A>G (p.Gln188Arg)	GALT (Q188R +1 more)	Single nucleotide variant (missense variant)	Galactosemia +4 more	GPathogenic
Select item 1330797	NM_000155.4(GALT):c.584T>G (p.Leu195Arg)	GALT (L195R +1 more)	Single nucleotide variant (missense variant)	Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase	GUncertain significance
Select item 25222	NM_000155.4(GALT):c.584T>C (p.Leu195Pro)	GALT (L86P)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic
Select item 618141	NM_000155.4(GALT):c.593T>C (p.Ile198Thr)	GALT (I198T +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 25226	NM_000155.4(GALT):c.601C>T (p.Arg201Cys)	GALT (R92C)	Single nucleotide variant (missense variant)	not specified +2 more	GPathogenic/Likely pathogenic
Select item 25227	NM_000155.4(GALT):c.602G>A (p.Arg201His)	GALT (R92H)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic
Select item 650599	NM_000155.4(GALT):c.617A>G (p.Gln206Arg)	GALT (Q97R +1 more)	Single nucleotide variant (missense variant)	Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase	GPathogenic/Likely pathogenic
Select item 439750	NM_000155.4(GALT):c.640G>A (p.Gly214Arg)	GALT (G105R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 39372	NM_000155.4(GALT):c.652C>T (p.Leu218=)	GALT	Single nucleotide variant (synonymous variant)	Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase +1 more	GBenign; other
Select item 37354	NM_000155.4(GALT):c.748C>A (p.Pro250Thr)	GALT (P250T +1 more)	Single nucleotide variant (missense variant)	not specified	GPathogenic
Select item 286433	NM_000155.4(GALT):c.752_753delinsCT (p.Tyr251Ser)	GALT (Y142S +1 more)	Indel (missense variant)	Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase +1 more	GPathogenic/Likely pathogenic
Select item 25254	NM_000155.4(GALT):c.752A>C (p.Tyr251Ser)	GALT (Y251S +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 25255	NM_000155.4(GALT):c.753C>T (p.Tyr251=)	GALT	Single nucleotide variant (synonymous variant)	Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase +1 more	GLikely benign
Select item 371396	NM_000155.4(GALT):c.761dup (p.Leu255fs)	GALT (L255fs +1 more)	Duplication (frameshift variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 92522	NM_000155.4(GALT):c.772C>T (p.Arg258Cys)	GALT (R258C +1 more)	Single nucleotide variant (missense variant)	Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase +1 more	GConflicting classifications of pathogenicity
Select item 280989	NM_000155.4(GALT):c.776G>A (p.Arg259Gln)	GALT (R259Q +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 459627	NM_000155.3(GALT):c.790_792invCTA (p.Leu264Ter)	GALT (L264* +1 more)	Inversion (nonsense)	not provided +1 more	GPathogenic
Select item 25267	NM_000155.4(GALT):c.812A>G (p.Glu271Gly)	GALT (E162G)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 3621	NM_000155.4(GALT):c.855G>T (p.Lys285Asn)	GALT (K285N +1 more)	Single nucleotide variant (missense variant)	Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase +1 more	GPathogenic
Select item 203732	NM_000155.4(GALT):c.864C>T (p.Asn288=)	GALT	Single nucleotide variant (synonymous variant)	not specified +2 more	GUncertain significance
Select item 36158	NM_000155.4(GALT):c.876G>A (p.Thr292=)	GALT	Single nucleotide variant (synonymous variant)	not specified +1 more	GBenign
Select item 38553	NM_000155.4(GALT):c.879C>T (p.Ser293=)	GALT	Single nucleotide variant (synonymous variant)	Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase	GBenign/Likely benign
Select item 439747	NM_000155.4(GALT):c.904+3G>T	GALT	Single nucleotide variant (intron variant)	not specified	GUncertain significance
Select item 3613	NM_000155.4(GALT):c.940A>G (p.Asn314Asp)	GALT (N314D +1 more)	Single nucleotide variant (missense variant)	Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase +3 more	GConflicting classifications of pathogenicity; other
Select item 36160	NM_000155.4(GALT):c.945T>C (p.His315=)	GALT	Single nucleotide variant (synonymous variant)	not specified +1 more	GBenign/Likely benign
Select item 25299	NM_000155.4(GALT):c.961C>T (p.His321Tyr)	GALT (H212Y)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 3610	NM_000155.4(GALT):c.997C>T (p.Arg333Trp)	GALT (R333W +1 more)	Single nucleotide variant (missense variant)	Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase +1 more	GPathogenic/Likely pathogenic
Select item 25320	NM_000155.4(GALT):c.1030C>A (p.Gln344Lys)	GALT (Q344K +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 811444	NM_000155.4(GALT):c.1049C>A (p.Thr350Asn)	GALT (T241N +1 more)	Single nucleotide variant (missense variant)	Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase	GConflicting classifications of pathogenicity
Select item 439748	NM_000155.4(GALT):c.1070_1071del (p.Arg357fs)	GALT (R248fs +1 more)	Microsatellite (frameshift variant)	not specified	GUncertain significance
Select item 25334	NM_000155.4(GALT):c.1132A>G (p.Ile378Val)	GALT (I269V)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 439751	NM_000155.4(GALT):c.*8G>A	GALT	Single nucleotide variant (3 prime UTR variant)	not specified +1 more	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: 55