DHRS4L2[gene] - ClinVar

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Items: 55

	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 154806	GRCh38/hg38 14q11.2-12(chr14:23984065-25374494)x1	ADCY4, CARMIL3 +122 more	Copy number loss	See cases	GPathogenic
Select item 157303	NM_001277864.1(DHRS4L1):c.-23423_-119+7390del	DHRS4L1, DHRS4L2 +2 more	Deletion	Large for gestational age +1 more	Gnot provided
Select item 2253001	NM_198083.4(DHRS4L2):c.16C>G (p.Leu6Val)	DHRS4L2 (L6V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2323918	NM_198083.4(DHRS4L2):c.25C>T (p.Leu9Phe)	DHRS4L2 (L9F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2399956	NM_198083.4(DHRS4L2):c.34T>C (p.Trp12Arg)	DHRS4L2 (W12R)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3082095	NM_198083.4(DHRS4L2):c.40C>T (p.Arg14Trp)	DHRS4L2 (R14W)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2358759	NM_198083.4(DHRS4L2):c.40C>G (p.Arg14Gly)	DHRS4L2 (R14G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3082099	NM_198083.4(DHRS4L2):c.98A>T (p.Lys33Met)	DHRS4L2 (K33M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2484318	NM_198083.4(DHRS4L2):c.133G>A (p.Gly45Ser)	DHRS4L2 (G17S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2222242	NM_198083.4(DHRS4L2):c.139G>A (p.Ala47Thr)	DHRS4L2 (A19T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2467149	NM_198083.4(DHRS4L2):c.151C>A (p.Arg51Ser)	DHRS4L2 (R23S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2600839	NM_198083.4(DHRS4L2):c.175G>A (p.Val59Met)	DHRS4L2 (V31M +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2275441	NM_198083.4(DHRS4L2):c.179T>C (p.Val60Ala)	DHRS4L2 (V60A +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2294781	NM_198083.4(DHRS4L2):c.236A>T (p.Glu79Val)	DHRS4L2 (E79V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2399170	NM_198083.4(DHRS4L2):c.278C>T (p.Ala93Val)	DHRS4L2 (A65V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2231834	NM_198083.4(DHRS4L2):c.287G>A (p.Arg96Gln)	DHRS4L2 (R96Q +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3082091	NM_198083.4(DHRS4L2):c.292C>T (p.Arg98Trp)	DHRS4L2 (R98W +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2621801	NM_198083.4(DHRS4L2):c.326G>A (p.Gly109Asp)	DHRS4L2 (G8D +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3082092	NM_198083.4(DHRS4L2):c.330C>G (p.Ile110Met)	DHRS4L2 (I110M +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2377828	NM_198083.4(DHRS4L2):c.331G>A (p.Asp111Asn)	DHRS4L2 (D111N +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3082093	NM_198083.4(DHRS4L2):c.340G>C (p.Val114Leu)	DHRS4L2 (V13L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3271818	NM_198083.4(DHRS4L2):c.348T>A (p.Asn116Lys)	DHRS4L2 (N116K +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2464821	NM_198083.4(DHRS4L2):c.350C>T (p.Ala117Val)	DHRS4L2 (A117V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2399282	NM_198083.4(DHRS4L2):c.374G>A (p.Ser125Asn)	DHRS4L2 (S125N +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3082094	NM_198083.4(DHRS4L2):c.403G>A (p.Asp135Asn)	DHRS4L2 (D135N +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2315859	NM_198083.4(DHRS4L2):c.419T>C (p.Ile140Thr)	DHRS4L2 (I140T +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2462744	NM_198083.4(DHRS4L2):c.481G>A (p.Gly161Ser)	DHRS4L2 (G161S +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3271817	NM_198083.4(DHRS4L2):c.499G>A (p.Val167Met)	DHRS4L2 (V167M +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2489006	NM_198083.4(DHRS4L2):c.515C>A (p.Ala172Asp)	DHRS4L2 (A110D +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 777873	NM_198083.4(DHRS4L2):c.534C>A (p.Gly178=)	DHRS4L2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3082096	NM_198083.4(DHRS4L2):c.592A>C (p.Ile198Leu)	DHRS4L2 (I56L +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3082097	NM_198083.4(DHRS4L2):c.619G>A (p.Val207Met)	DHRS4L2 (V106M +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3082098	NM_198083.4(DHRS4L2):c.633C>G (p.His211Gln)	DHRS4L2 (H149Q +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2685479	GRCh37/hg19 14q11.2-12(chr14:24445622-28262222)x1	RIPK3, RNF31 +41 more	Copy number loss	not provided	GLikely pathogenic
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: 55