ClinVar for MedGen (Select 742296) - ClinVar - NCBI

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Items: 16

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 812988	NC_000002.12:g.201705201del	ALS2	Deletion (genic downstream transcript variant)	Global developmental delay +5 more	GLikely pathogenic
Select item 812775	NM_002150.3(HPD):c.1049T>C (p.Val350Ala)	HPD (V350A +1 more)	Single nucleotide variant (missense variant)	Global developmental delay +5 more	GLikely pathogenic
Select item 369125	NM_000353.2(TAT):c.-113G>T	TAT	Single nucleotide variant	Hypertyrosinemia	GLikely benign
Select item 369124	NM_000353.2(TAT):c.-104_-103delCT	TAT	Deletion	Hypertyrosinemia	GLikely benign
Select item 369102	NM_000137.4(FAH):c.-178G>A	FAH, LOC130057734	Single nucleotide variant (genic upstream transcript variant)	Hypertyrosinemia +1 more	GBenign/Likely benign
Select item 368982	NM_001171993.2(HPD):c.-115+47G>A	HPD	Single nucleotide variant (intron variant)	Hypertyrosinemia +2 more	GBenign
Select item 368981	NM_001171993.2(HPD):c.-115+52A>G	HPD	Single nucleotide variant (intron variant)	not provided +2 more	GLikely benign
Select item 320417	NM_000353.3(TAT):c.-83C>T	TAT	Single nucleotide variant (5 prime UTR variant)	Hypertyrosinemia	GUncertain significance
Select item 320412	NM_000353.3(TAT):c.308C>T (p.Ser103Leu)	TAT (S103L)	Single nucleotide variant (missense variant)	Hypertyrosinemia	GUncertain significance
Select item 320397	NM_000353.3(TAT):c.350_352del	TAT, TAT-AS1	Deletion (3 prime UTR variant)	Hypertyrosinemia	GUncertain significance
Select item 320396	NM_000353.3(TAT):c.*393CT[3]	TAT, TAT-AS1	Microsatellite (3 prime UTR variant)	Hypertyrosinemia	GLikely benign
Select item 320385	NM_000353.3(TAT):c.*1276del	TAT, TAT-AS1	Deletion (3 prime UTR variant)	Hypertyrosinemia	GUncertain significance
Select item 317217	NM_000137.4(FAH):c.*51del	FAH	Deletion (3 prime UTR variant)	Hypertyrosinemia +1 more	GBenign/Likely benign
Select item 317211	NM_000137.4(FAH):c.296A>G (p.Asp99Gly)	FAH (D99G)	Single nucleotide variant (missense variant)	Hypertyrosinemia +3 more	GConflicting classifications of pathogenicity
Select item 307491	NM_002150.3(HPD):c.5C>T (p.Thr2Met)	HPD (T2M)	Single nucleotide variant (5 prime UTR variant +1 more)	Hawkinsinuria +2 more	GUncertain significance
Select item 267924	46;XY;t(16;20)(q23.1;p11.22)		Translocation	Hyperhydroxyprolinemia +24 more	GUncertain significance