"Ambry Genetics"[submitter] AND "PTCHD1-AS"[gene] - ClinVar

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Items: 29

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 521768	NM_000444.6(PHEX):c.2040C>A (p.Asn680Lys)	PHEX, PTCHD1-AS (N680K)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided +2 more	GUncertain significance
Select item 914540	NM_000444.6(PHEX):c.2068C>A (p.His690Asn)	PHEX, PTCHD1-AS (H690N)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 2527246	NM_000444.6(PHEX):c.2153A>G (p.Asn718Ser)	PHEX, PTCHD1-AS (N718S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2597564	NM_152577.4(CBLL2):c.281C>T (p.Pro94Leu)	CBLL2, PTCHD1-AS (P94L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2512312	NM_152577.4(CBLL2):c.523G>T (p.Asp175Tyr)	CBLL2, PTCHD1-AS (D175Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2601344	NM_152577.4(CBLL2):c.728T>C (p.Ile243Thr)	CBLL2, PTCHD1-AS (I243T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2464576	NM_152577.4(CBLL2):c.828A>G (p.Ile276Met)	PTCHD1-AS, CBLL2 (I276M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2568698	NM_152577.4(CBLL2):c.934C>G (p.Gln312Glu)	CBLL2, PTCHD1-AS (Q312E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2610847	NM_152577.4(CBLL2):c.953C>T (p.Thr318Met)	CBLL2, PTCHD1-AS (T318M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2516544	NM_182699.4(DDX53):c.80G>A (p.Ser27Asn)	DDX53, PTCHD1-AS (S27N)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2379743	NM_182699.4(DDX53):c.96G>C (p.Trp32Cys)	DDX53, PTCHD1-AS (W32C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2588910	NM_182699.4(DDX53):c.217G>C (p.Asp73His)	DDX53, PTCHD1-AS (D73H)	Single nucleotide variant (missense variant)	DDX53-related condition +1 more	GConflicting classifications of pathogenicity
Select item 2623275	NM_182699.4(DDX53):c.260G>C (p.Gly87Ala)	DDX53, PTCHD1-AS (G87A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2236533	NM_182699.4(DDX53):c.365A>C (p.Glu122Ala)	DDX53, PTCHD1-AS (E122A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2204382	NM_182699.4(DDX53):c.400A>G (p.Ile134Val)	DDX53, PTCHD1-AS (I134V)	Single nucleotide variant (missense variant)	DDX53-related condition +2 more	GLikely benign
Select item 2333158	NM_182699.4(DDX53):c.571A>G (p.Met191Val)	DDX53, PTCHD1-AS (M191V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2457276	NM_182699.4(DDX53):c.649C>T (p.Pro217Ser)	PTCHD1-AS, DDX53 (P217S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2514719	NM_182699.4(DDX53):c.787A>G (p.Ile263Val)	DDX53, PTCHD1-AS (I263V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2408926	NM_182699.4(DDX53):c.1157T>C (p.Phe386Ser)	PTCHD1-AS, DDX53 (F386S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2259187	NM_182699.4(DDX53):c.1241T>C (p.Val414Ala)	PTCHD1-AS, DDX53 (V414A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2226975	NM_182699.4(DDX53):c.1244G>A (p.Arg415His)	DDX53, PTCHD1-AS (R415H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2361432	NM_182699.4(DDX53):c.1250T>A (p.Leu417Gln)	PTCHD1-AS, DDX53 (L417Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2319406	NM_182699.4(DDX53):c.1313T>C (p.Val438Ala)	PTCHD1-AS, DDX53 (V438A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2549622	NM_182699.4(DDX53):c.1355A>G (p.Glu452Gly)	DDX53, PTCHD1-AS (E452G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2529468	NM_182699.4(DDX53):c.1511G>C (p.Ser504Thr)	DDX53, PTCHD1-AS (S504T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2387449	NM_182699.4(DDX53):c.1535A>C (p.Asp512Ala)	DDX53, PTCHD1-AS (D512A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2357300	NM_182699.4(DDX53):c.1577T>G (p.Ile526Arg)	DDX53, PTCHD1-AS (I526R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2400300	NM_182699.4(DDX53):c.1648G>A (p.Val550Ile)	PTCHD1-AS, DDX53 (V550I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2232733	NM_182699.4(DDX53):c.1693G>A (p.Gly565Ser)	DDX53, PTCHD1-AS (G565S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance

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Items: 29