ClinVar (all) for Orgtrack (Select 504794) - ClinVar - NCBI

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Items: 14

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 430849	NM_006702.4(PNPLA6):c.[3242G>T];[3390G>C]			Ataxia-hypogonadism-choroidal dystrophy syndrome	GPathogenic
Select item 91882	NM_000036.3(AMPD1):c.727G>A (p.Asp243Asn)	AMPD1 (D276N +2 more)	Single nucleotide variant (missense variant)	Autism	GUncertain significance
Select item 91881	NM_000036.3(AMPD1):c.-30G>A	AMPD1 (A24T)	Single nucleotide variant (5 prime UTR variant)	Autism	GUncertain significance
Select item 91880	NM_000036.3(AMPD1):c.603T>A (p.Pro201=)	AMPD1	Single nucleotide variant (synonymous variant)	Autism	GLikely benign
Select item 91879	NM_000036.3(AMPD1):c.540C>T (p.Phe180=)	AMPD1	Single nucleotide variant (synonymous variant)	Autism	GLikely benign
Select item 91878	NM_000036.3(AMPD1):c.509A>T (p.Asp170Val)	AMPD1 (D203V +2 more)	Single nucleotide variant (missense variant)	Autism +1 more	GUncertain significance
Select item 91877	NM_000036.3(AMPD1):c.507T>G (p.Ile169Met)	AMPD1 (I202M +2 more)	Single nucleotide variant (missense variant)	Muscle AMP deaminase deficiency +1 more	GUncertain significance
Select item 91876	NM_000036.3(AMPD1):c.-69C>G	AMPD1 (Q11E)	Single nucleotide variant (5 prime UTR variant)	Autism	GUncertain significance
Select item 91875	NM_000036.3(AMPD1):c.1943C>T (p.Thr648Ile)	AMPD1 (T681I +2 more)	Single nucleotide variant (missense variant)	Autism	GUncertain significance
Select item 91874	NM_000036.3(AMPD1):c.1778C>G (p.Ser593Cys)	AMPD1 (S626C +2 more)	Single nucleotide variant (missense variant)	Autism	GUncertain significance
Select item 91873	NM_000036.3(AMPD1):c.1615C>T (p.Pro539Ser)	AMPD1 (P572S +2 more)	Single nucleotide variant (missense variant)	Autism	GUncertain significance
Select item 91872	NM_000036.3(AMPD1):c.1470C>T (p.Thr490=)	AMPD1	Single nucleotide variant (synonymous variant)	Autism	GLikely benign
Select item 91871	NM_000036.3(AMPD1):c.1399C>T (p.Arg467Cys)	AMPD1 (R500C +2 more)	Single nucleotide variant (missense variant)	Muscle AMP deaminase deficiency +1 more	GUncertain significance
Select item 91870	NM_000036.3(AMPD1):c.1350C>G (p.Cys450Trp)	AMPD1 (C483W +2 more)	Single nucleotide variant (missense variant)	Autism	GUncertain significance