DHRS4[gene] - ClinVar

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Items: 56

	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
Select item 2604654	NM_021004.4(DHRS4):c.229C>G (p.Gln77Glu)	DHRS4 (Q77E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2372068	NM_021004.4(DHRS4):c.259G>C (p.Val87Leu)	DHRS4 (V87L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2220961	NM_021004.4(DHRS4):c.285C>G (p.Asp95Glu)	DHRS4 (D95E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2254978	NM_021004.4(DHRS4):c.286C>G (p.Arg96Gly)	DHRS4 (R96G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2522865	NM_021004.4(DHRS4):c.361C>A (p.Pro121Thr)	DHRS4 (P121T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2215130	NM_021004.4(DHRS4):c.371G>A (p.Gly124Glu)	DHRS4 (G124E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2380834	NM_021004.4(DHRS4):c.383A>C (p.Asp128Ala)	DHRS4 (D128A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 768639	NM_021004.4(DHRS4):c.390T>C (p.Thr130=)	DHRS4	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2261235	NM_021004.4(DHRS4):c.415G>A (p.Asp139Asn)	DHRS4 (D139N +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3271815	NM_021004.4(DHRS4):c.481G>A (p.Gly161Ser)	DHRS4 (G161S +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3082082	NM_021004.4(DHRS4):c.484G>A (p.Gly162Ser)	DHRS4 (R138Q +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3082084	NM_021004.4(DHRS4):c.514G>C (p.Ala172Pro)	DHRS4 (A172P +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3082085	NM_021004.4(DHRS4):c.517T>C (p.Phe173Leu)	DHRS4 (F139L +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2479297	NM_021004.4(DHRS4):c.541C>G (p.Pro181Ala)	DHRS4 (P147A +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 778993	NM_021004.4(DHRS4):c.604C>T (p.Pro202Ser)	DHRS4 (P168S +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 3082086	NM_021004.4(DHRS4):c.608G>A (p.Arg203Lys)	DHRS4 (R169K +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3271816	NM_021004.4(DHRS4):c.638G>A (p.Gly213Glu)	DHRS4 (G179E +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3082087	NM_021004.4(DHRS4):c.675G>C (p.Met225Ile)	DHRS4 (G157R +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2311517	NM_021004.4(DHRS4):c.730G>A (p.Glu244Lys)	DHRS4 (R175Q +5 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2226052	NM_021004.4(DHRS4):c.775G>C (p.Asp259His)	DHRS4 (D225H +4 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2455134	NM_021004.4(DHRS4):c.777T>A (p.Asp259Glu)	DHRS4 (D225E +4 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3082088	NM_021004.4(DHRS4):c.778G>C (p.Ala260Pro)	DHRS4 (A226P +4 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3082089	NM_021004.4(DHRS4):c.800C>T (p.Thr267Ile)	DHRS4 (T147I +4 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2371982	NM_021004.4(DHRS4):c.805G>A (p.Val269Met)	DHRS4 (V183M +4 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2684714	GRCh37/hg19 14q11.2-23.1(chr14:20511673-61826023)x3	ABHD12B, ABHD4 +289 more	Copy number gain	not provided	GPathogenic
Select item 2423736	NC_000014.8:g.(?_23242819)_(25103366_?)dup	MRPL52, MYH6 +77 more	Duplication	Lysinuric protein intolerance +1 more	GUncertain significance
Select item 1703540	GRCh37/hg19 14q11.2-21.3(chr14:20511672-47481203)	ABHD4, ACIN1 +197 more	Copy number gain	Seizure	GPathogenic
Select item 1676204	NC_000014.8:g.(21162263_36986276)_(36987308_50713602)del	DHRS1, NYNRIN +190 more	Deletion	Brain-lung-thyroid syndrome	GPathogenic
Select item 980003	GRCh37/hg19 14q11.2-12(chr14:24163771-24818728)x3	ADCY4, CARMIL3 +31 more	Copy number gain	not provided	GUncertain significance
Select item 973024	GRCh37/hg19 14q11.2-21.1(chr14:20511672-42881888)x3	AKAP6, MDP1 +187 more	Copy number gain	not provided	Gnot provided
Select item 815628	GRCh37/hg19 14q11.2-21.2(chr14:20511672-44829030)x3	ABHD4, ACIN1 +187 more	Copy number gain	not provided	GPathogenic
Select item 625814	GRCh37/hg19 14q11.2-12(chr14:19100682-28730087)	ARHGEF40, BCL2L2 +152 more	Copy number gain	not provided	GPathogenic
Select item 443977	GRCh37/hg19 14q11.2-32.33(chr14:20511673-107285437)	GTF2A1, GZMB +624 more	Copy number gain	See cases	GPathogenic
Select item 442398	GRCh37/hg19 14q11.2-12(chr14:24233721-31377083)x1	ADCY4, CARMIL3 +48 more	Copy number loss	See cases	GPathogenic
Select item 395470	GRCh37/hg19 14q11.2-32.33(chr14:19794561-107234280)x3	ABCD4, ABHD12B +635 more	Copy number gain	See cases	GPathogenic
Select item 394361	GRCh37/hg19 14q11.2-13.1(chr14:19794561-34049214)x3	OR5AU1, OR6S1 +164 more	Copy number gain	See cases	GPathogenic
Select item 253659	GRCh37/hg19 14q11.2-12(chr14:19794561-27768254)x3	ABHD4, ACIN1 +149 more	Copy number gain	See cases	GPathogenic

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Items: 56