C0033788[trait identifier] AND "Genome-Nilou Lab"[submitter] - ClinVar

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Items: 21

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 96122	NM_024312.5(GNPTAB):c.3602+8C>A	GNPTAB	Single nucleotide variant (intron variant)	Pseudo-Hurler polydystrophy +3 more	GBenign
Select item 68107	NM_024312.5(GNPTAB):c.3598G>A (p.Glu1200Lys)	GNPTAB (E1200K)	Single nucleotide variant (missense variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 1199321	NM_024312.5(GNPTAB):c.3525G>T (p.Met1175Ile)	GNPTAB (M1175I)	Single nucleotide variant (missense variant)	Mucolipidosis type II +2 more	GUncertain significance
Select item 2771	NM_024312.5(GNPTAB):c.3503_3504del (p.Leu1168fs)	GNPTAB (L1168fs)	Microsatellite (frameshift variant)	GNPTAB-related disorder +4 more	GPathogenic
Select item 1210420	NM_024312.5(GNPTAB):c.3460A>G (p.Ile1154Val)	GNPTAB (I1154V)	Single nucleotide variant (missense variant)	Pseudo-Hurler polydystrophy +1 more	GUncertain significance
Select item 671998	NM_024312.5(GNPTAB):c.3434+112C>G	GNPTAB	Single nucleotide variant (intron variant)	Mucolipidosis type II +2 more	GBenign
Select item 261695	NM_024312.5(GNPTAB):c.3336-25T>C	GNPTAB	Single nucleotide variant (intron variant)	not provided +3 more	GBenign
Select item 96121	NM_024312.5(GNPTAB):c.3135+5T>C	GNPTAB	Single nucleotide variant (intron variant)	not provided +3 more	GBenign
Select item 1199370	NM_024312.5(GNPTAB):c.2660G>A (p.Ser887Asn)	GNPTAB (S887N)	Single nucleotide variant (missense variant)	Pseudo-Hurler polydystrophy +1 more	GUncertain significance
Select item 1199369	NM_024312.5(GNPTAB):c.2304A>C (p.Lys768Asn)	GNPTAB (K768N)	Single nucleotide variant (missense variant)	Mucolipidosis type II +2 more	GConflicting classifications of pathogenicity
Select item 96119	NM_024312.5(GNPTAB):c.1932A>G (p.Thr644=)	GNPTAB	Single nucleotide variant (synonymous variant)	Mucolipidosis type II +3 more	GBenign
Select item 1199320	NM_024312.5(GNPTAB):c.1661A>G (p.His554Arg)	GNPTAB (H554R)	Single nucleotide variant (missense variant)	Pseudo-Hurler polydystrophy +1 more	GUncertain significance
Select item 786142	NM_024312.5(GNPTAB):c.1433T>C (p.Ile478Thr)	GNPTAB (I478T)	Single nucleotide variant (missense variant)	Mucolipidosis type II +2 more	GConflicting classifications of pathogenicity
Select item 1199371	NM_024312.5(GNPTAB):c.1252G>A (p.Asp418Asn)	GNPTAB (D418N)	Single nucleotide variant (missense variant)	Pseudo-Hurler polydystrophy +1 more	GUncertain significance
Select item 1199372	NM_024312.5(GNPTAB):c.527C>G (p.Pro176Arg)	GNPTAB (P176R)	Single nucleotide variant (missense variant)	Pseudo-Hurler polydystrophy +1 more	GUncertain significance
Select item 671992	NM_024312.5(GNPTAB):c.365+145C>T	GNPTAB	Single nucleotide variant (intron variant)	not provided +2 more	GBenign
Select item 306819	NM_024312.5(GNPTAB):c.204-15G>T	GNPTAB	Single nucleotide variant (intron variant)	Mucolipidosis type II +2 more	GBenign
Select item 671991	NM_024312.5(GNPTAB):c.204-103G>T	GNPTAB	Single nucleotide variant (intron variant)	Pseudo-Hurler polydystrophy +2 more	GBenign
Select item 672050	NM_024312.5(GNPTAB):c.117+215C>T	GNPTAB, LOC124646390	Single nucleotide variant (intron variant)	not provided +2 more	GBenign
Select item 96118	NM_024312.5(GNPTAB):c.18G>A (p.Leu6=)	GNPTAB	Single nucleotide variant (synonymous variant)	Mucolipidosis type II +3 more	GBenign
Select item 261693	NM_024312.5(GNPTAB):c.-62GGC[7]	GNPTAB	Microsatellite (5 prime UTR variant)	Pseudo-Hurler polydystrophy +3 more	GBenign

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Items: 21