"GeneDx"[submitter] AND "HPD"[gene] - ClinVar

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Items: 34

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59821	GRCh38/hg38 12q24.21-24.33(chr12:115131583-133166920)x3	LOC130009192, LOC130009193 +892 more	Copy number gain	See cases	GPathogenic
Select item 57609	GRCh38/hg38 12q24.31(chr12:120504068-122459718)x1	ACADS, ANAPC5 +175 more	Copy number loss	See cases	GPathogenic
Select item 307478	NM_002150.3(HPD):c.1018G>T (p.Val340Leu)	HPD (V301L +1 more)	Single nucleotide variant (missense variant)	Hawkinsinuria +2 more	GBenign
Select item 1576	NM_002150.3(HPD):c.1005C>G (p.Ile335Met)	HPD (I335M +1 more)	Single nucleotide variant (missense variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 1182186	NM_002150.3(HPD):c.954+41T>C	HPD	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 307480	NM_002150.3(HPD):c.914C>T (p.Thr305Met)	HPD (T266M +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 1312275	NM_002150.3(HPD):c.880A>G (p.Thr294Ala)	HPD (T255A +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1253596	NM_002150.3(HPD):c.831+53A>G	HPD	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1244959	NM_002150.3(HPD):c.596+205G>A	HPD	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1278303	NM_002150.3(HPD):c.596+169G>A	HPD	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1233491	NM_002150.3(HPD):c.519-151del	HPD	Deletion (intron variant)	not provided	GBenign
Select item 1231047	NM_002150.3(HPD):c.518+303A>T	HPD	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 513314	NM_002150.3(HPD):c.499G>A (p.Asp167Asn)	HPD (D128N +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GBenign/Likely benign
Select item 1263277	NM_002150.3(HPD):c.415-189C>T	HPD	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1290989	NM_002150.3(HPD):c.414+63C>T	HPD	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 307485	NM_002150.3(HPD):c.414G>A (p.Thr138=)	HPD	Single nucleotide variant (synonymous variant)	Hawkinsinuria +2 more	GBenign/Likely benign
Select item 1042401	NM_002150.3(HPD):c.356G>A (p.Arg119Gln)	HPD (R80Q +1 more)	Single nucleotide variant (missense variant)	Tyrosinemia type III +2 more	GUncertain significance
Select item 529470	NM_002150.3(HPD):c.345C>T (p.Ala115=)	HPD	Single nucleotide variant (synonymous variant)	Tyrosinemia type III +2 more	GBenign
Select item 307486	NM_002150.3(HPD):c.338G>A (p.Arg113Gln)	HPD (R113Q +1 more)	Single nucleotide variant (missense variant)	Hawkinsinuria +2 more	GBenign
Select item 1312276	NM_002150.3(HPD):c.331C>T (p.Arg111Trp)	HPD (R111W +1 more)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 1279082	NM_002150.3(HPD):c.325-264A>C	HPD	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1243383	NM_002150.3(HPD):c.324+225C>T	HPD, LOC126861662	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1010137	NM_002150.3(HPD):c.247G>A (p.Gly83Ser)	HPD, LOC126861662 (G44S +1 more)	Single nucleotide variant (missense variant)	HPD-related disorder +3 more	GUncertain significance
Select item 1247476	NM_002150.3(HPD):c.241+61G>T	HPD, LOC126861662	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1691182	NM_002150.3(HPD):c.199-192del	HPD, LOC126861662	Deletion (intron variant)	not provided	GLikely benign
Select item 1275002	NM_002150.3(HPD):c.198+339G>C	HPD	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1267641	NM_002150.3(HPD):c.198+156G>A	HPD	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1227235	NM_002150.3(HPD):c.94-1G>A	HPD	Single nucleotide variant (splice acceptor variant)	not provided	GBenign
Select item 307489	NM_002150.3(HPD):c.94-6A>T	HPD	Single nucleotide variant (intron variant)	Hawkinsinuria +2 more	GBenign
Select item 1267603	NM_002150.3(HPD):c.31-236del	HPD	Deletion (intron variant)	not provided	GBenign
Select item 235261	NM_002150.3(HPD):c.15T>G (p.Ser5Arg)	HPD (S5R)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided +2 more	GBenign
Select item 368981	NM_001171993.2(HPD):c.-115+52A>G	HPD	Single nucleotide variant (intron variant)	Hypertyrosinemia +2 more	GLikely benign
Select item 368982	NM_001171993.2(HPD):c.-115+47G>A	HPD	Single nucleotide variant (intron variant)	Hypertyrosinemia +2 more	GBenign
Select item 1251028	NM_001171993.2(HPD):c.-316A>G	HPD	Single nucleotide variant (5 prime UTR variant)	not provided	GBenign

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Items: 34