"GNPTAB-related disorder"[Disease/phenotype] AND "PreventionGenetics, - ClinVar

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Items: 21

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 749475	NM_024312.5(GNPTAB):c.3693+9del	GNPTAB	Deletion (intron variant)	Mucolipidosis type II +2 more	GLikely benign
Select item 1100084	NM_024312.5(GNPTAB):c.3612T>C (p.Tyr1204=)	GNPTAB	Single nucleotide variant (synonymous variant)	GNPTAB-related disorder +2 more	GLikely benign
Select item 2632939	NM_024312.5(GNPTAB):c.3435-219C>T	GNPTAB	Single nucleotide variant (intron variant)	GNPTAB-related disorder	GUncertain significance
Select item 306799	NM_024312.5(GNPTAB):c.3216A>G (p.Pro1072=)	GNPTAB	Single nucleotide variant (synonymous variant)	Pseudo-Hurler polydystrophy +3 more	GConflicting classifications of pathogenicity
Select item 2142498	NM_024312.5(GNPTAB):c.2829T>C (p.Asn943=)	GNPTAB	Single nucleotide variant (synonymous variant)	GNPTAB-related disorder +2 more	GLikely benign
Select item 306804	NM_024312.5(GNPTAB):c.2625G>A (p.Val875=)	GNPTAB	Single nucleotide variant (synonymous variant)	Pseudo-Hurler polydystrophy +2 more	GConflicting classifications of pathogenicity
Select item 306805	NM_024312.5(GNPTAB):c.2499A>G (p.Glu833=)	GNPTAB	Single nucleotide variant (synonymous variant)	Pseudo-Hurler polydystrophy +2 more	GConflicting classifications of pathogenicity
Select item 2632632	NM_024312.5(GNPTAB):c.2229dup (p.Gln744fs)	GNPTAB (Q744fs)	Duplication (frameshift variant)	GNPTAB-related disorder	GLikely pathogenic
Select item 881639	NM_024312.5(GNPTAB):c.1826C>A (p.Thr609Asn)	GNPTAB (T609N)	Single nucleotide variant (missense variant)	GNPTAB-related disorder +2 more	GConflicting classifications of pathogenicity
Select item 723773	NM_024312.5(GNPTAB):c.1800C>T (p.Leu600=)	GNPTAB	Single nucleotide variant (synonymous variant)	Mucolipidosis type II +2 more	GConflicting classifications of pathogenicity
Select item 731869	NM_024312.5(GNPTAB):c.1750C>A (p.Pro584Thr)	GNPTAB (P584T)	Single nucleotide variant (missense variant)	Mucolipidosis type II +2 more	GBenign/Likely benign
Select item 306809	NM_024312.5(GNPTAB):c.1626A>G (p.Glu542=)	GNPTAB	Single nucleotide variant (synonymous variant)	Pseudo-Hurler polydystrophy +2 more	GBenign/Likely benign
Select item 558796	NM_024312.5(GNPTAB):c.1422G>A (p.Gly474=)	GNPTAB	Single nucleotide variant (synonymous variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 306810	NM_024312.5(GNPTAB):c.1269C>T (p.His423=)	GNPTAB	Single nucleotide variant (synonymous variant)	Mucolipidosis type II +2 more	GConflicting classifications of pathogenicity
Select item 1091762	NM_024312.5(GNPTAB):c.1263C>T (p.Tyr421=)	GNPTAB	Single nucleotide variant (synonymous variant)	GNPTAB-related disorder +2 more	GLikely benign
Select item 991285	NM_024312.5(GNPTAB):c.1114-14GTT[2]	GNPTAB	Microsatellite (intron variant)	GNPTAB-related disorder +2 more	GBenign/Likely benign
Select item 1122668	NM_024312.5(GNPTAB):c.1104A>T (p.Val368=)	GNPTAB	Single nucleotide variant (synonymous variant)	GNPTAB-related disorder +2 more	GLikely benign
Select item 727709	NM_024312.5(GNPTAB):c.1086T>C (p.Asn362=)	GNPTAB	Single nucleotide variant (synonymous variant)	Mucolipidosis type II +2 more	GLikely benign
Select item 881224	NM_024312.5(GNPTAB):c.1023A>G (p.Pro341=)	GNPTAB	Single nucleotide variant (synonymous variant)	GNPTAB-related disorder +2 more	GConflicting classifications of pathogenicity
Select item 753672	NM_024312.5(GNPTAB):c.228C>T (p.Asp76=)	GNPTAB	Single nucleotide variant (synonymous variant)	GNPTAB-related disorder +2 more	GBenign/Likely benign
Select item 2633980	NM_024312.5(GNPTAB):c.142del (p.Gln48fs)	GNPTAB (Q48fs)	Deletion (frameshift variant)	GNPTAB-related disorder	GLikely pathogenic

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Items: 21