DHRS4-AS1[gene] - ClinVar - NCBI

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Items: 19

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59932	GRCh38/hg38 14q11.2-21.1(chr14:20000611-38984415)x3	LOC130055392, LOC130055393 +780 more	Copy number gain	See cases	GPathogenic
Select item 155119	GRCh38/hg38 14q11.2-21.2(chr14:20022693-44093672)x3	ABHD4, ACIN1 +814 more	Copy number gain	See cases	GPathogenic
Select item 155681	GRCh38/hg38 14q11.2-21.3(chr14:20043513-48642042)x3	OR10G2, OR10G3 +859 more	Copy number gain	See cases	GPathogenic
Select item 155306	GRCh38/hg38 14q11.2-32.33(chr14:20043514-106877229)x3	LOC126862060, LOC126862061 +3282 more	Copy number gain	See cases	GPathogenic
Select item 146230	GRCh38/hg38 14q11.2-32.33(chr14:20151149-106855263)x3	LOC125048449, LOC125048450 +3277 more	Copy number gain	See cases	GPathogenic
Select item 57745	GRCh38/hg38 14q11.2-21.2(chr14:20196945-45284802)x1	LOC112214170, LOC112214171 +840 more	Copy number loss	See cases	GPathogenic
Select item 148657	GRCh38/hg38 14q11.2-12(chr14:20412587-25018120)x3	LOC124958010, LOC124958011 +529 more	Copy number gain	See cases	GLikely pathogenic
Select item 57750	GRCh38/hg38 14q11.2-21.1(chr14:23548960-41983402)x1	MIR4503, MIR624 +399 more	Copy number loss	See cases	GPathogenic
Select item 790140	NM_021004.4(DHRS4):c.34C>A (p.Arg12=)	DHRS4, DHRS4-AS1	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 2275308	NM_021004.4(DHRS4):c.41G>C (p.Trp14Ser)	DHRS4, DHRS4-AS1 (W14S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2462622	NM_021004.4(DHRS4):c.56T>G (p.Met19Arg)	DHRS4, DHRS4-AS1 (M19R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2600062	NM_021004.4(DHRS4):c.59C>T (p.Ala20Val)	DHRS4, DHRS4-AS1 (A20V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2276284	NM_021004.4(DHRS4):c.71T>G (p.Met24Arg)	DHRS4, DHRS4-AS1 (M24R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2275707	NM_021004.4(DHRS4):c.74C>T (p.Thr25Ile)	DHRS4, DHRS4-AS1 (T25I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3082090	NM_021004.4(DHRS4):c.94A>G (p.Asn32Asp)	DHRS4, DHRS4-AS1 (N32D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2531960	NM_021004.4(DHRS4):c.149G>A (p.Arg50Gln)	DHRS4, DHRS4-AS1 (R50Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 736886	NM_021004.4(DHRS4):c.191G>A (p.Arg64Gln)	DHRS4, DHRS4-AS1 (R64Q)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 3082080	NM_021004.4(DHRS4):c.197A>C (p.Gln66Pro)	DHRS4, DHRS4-AS1 (Q66P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3082081	NM_021004.4(DHRS4):c.206T>A (p.Val69Glu)	DHRS4, DHRS4-AS1 (V69E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance