DHRS13[gene] - ClinVar

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Items: 46

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 147274	GRCh38/hg38 17q11.2(chr17:28283125-28904397)x3	ALDOC, BLTP2 +88 more	Copy number gain	See cases	GBenign
Select item 154383	GRCh38/hg38 17q11.2(chr17:28757283-29216419)x3	DHRS13, ERAL1 +39 more	Copy number gain	See cases	GUncertain significance
Select item 3271806	NM_144683.4(DHRS13):c.1109T>G (p.Val370Gly)	DHRS13 (V370G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3271803	NM_144683.4(DHRS13):c.1094G>A (p.Arg365Gln)	DHRS13 (R365Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3082053	NM_144683.4(DHRS13):c.1092C>A (p.His364Gln)	DHRS13 (H364Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3271800	NM_144683.4(DHRS13):c.926G>A (p.Arg309Lys)	DHRS13 (R309K)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2210212	NM_144683.4(DHRS13):c.904C>T (p.Arg302Trp)	DHRS13 (R302W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2374173	NM_144683.4(DHRS13):c.892C>T (p.Arg298Trp)	DHRS13 (R298W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2394526	NM_144683.4(DHRS13):c.889G>A (p.Asp297Asn)	DHRS13 (D297N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3082058	NM_144683.4(DHRS13):c.884G>A (p.Arg295Gln)	DHRS13 (R295Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3271801	NM_144683.4(DHRS13):c.823G>A (p.Glu275Lys)	DHRS13 (E275K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2519165	NM_144683.4(DHRS13):c.812A>G (p.Gln271Arg)	DHRS13 (Q271R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2292642	NM_144683.4(DHRS13):c.766C>T (p.Arg256Trp)	DHRS13 (R256W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2363526	NM_144683.4(DHRS13):c.746C>T (p.Pro249Leu)	DHRS13 (P249L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3271799	NM_144683.4(DHRS13):c.730C>T (p.Arg244Cys)	DHRS13 (R244C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2387748	NM_144683.4(DHRS13):c.634G>A (p.Ala212Thr)	DHRS13 (A212T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2307413	NM_144683.4(DHRS13):c.598A>G (p.Thr200Ala)	DHRS13 (T200A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2456422	NM_144683.4(DHRS13):c.595G>C (p.Asp199His)	DHRS13 (D199H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2247413	NM_144683.4(DHRS13):c.584G>A (p.Arg195Gln)	DHRS13 (R195Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3082056	NM_144683.4(DHRS13):c.517C>A (p.His173Asn)	DHRS13 (H173N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2205959	NM_144683.4(DHRS13):c.514G>C (p.Ala172Pro)	DHRS13 (A172P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3082055	NM_144683.4(DHRS13):c.493G>T (p.Val165Leu)	DHRS13 (V165L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3082054	NM_144683.4(DHRS13):c.493G>A (p.Val165Met)	DHRS13 (V165M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2364328	NM_144683.4(DHRS13):c.491G>A (p.Arg164His)	DHRS13 (R164H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3271805	NM_144683.4(DHRS13):c.437C>T (p.Pro146Leu)	DHRS13 (P146L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2524996	NM_144683.4(DHRS13):c.433G>A (p.Gly145Ser)	DHRS13 (G145S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2460433	NM_144683.4(DHRS13):c.344G>A (p.Arg115Gln)	DHRS13 (R115Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2375764	NM_144683.4(DHRS13):c.343C>T (p.Arg115Trp)	DHRS13 (R115W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2235533	NM_144683.4(DHRS13):c.308G>A (p.Arg103Gln)	DHRS13 (R103Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2491276	NM_144683.4(DHRS13):c.283G>A (p.Asp95Asn)	DHRS13 (D95N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2323761	NM_144683.4(DHRS13):c.251G>T (p.Ser84Ile)	DHRS13 (S84I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2280664	NM_144683.4(DHRS13):c.206G>T (p.Ser69Ile)	DHRS13 (S69I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3271804	NM_144683.4(DHRS13):c.194T>C (p.Leu65Pro)	DHRS13 (L65P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2647604	NM_144683.4(DHRS13):c.129C>A (p.Gly43=)	DHRS13, LOC130060581	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3082057	NM_144683.4(DHRS13):c.83G>A (p.Cys28Tyr)	DHRS13, LOC130060581 (C28Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2334516	NM_144683.4(DHRS13):c.64C>G (p.Leu22Val)	DHRS13, LOC130060581 (L22V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2580348	GRCh37/hg19 17q11.1-11.2(chr17:25263507-27829791)x3	FAM222B, FLOT2 +41 more	Copy number gain	Developmental delay with or without intellectual impairment or behavioral abnormalities	GUncertain significance
Select item 2427184	NC_000017.10:g.(?_26684694)_(29701173_?)dup	ABHD15, ADAP2 +54 more	Duplication	not provided	GUncertain significance
Select item 2425303	NC_000017.10:g.(?_26684694)_(27581367_?)dup	ALDOC, BLTP2 +29 more	Duplication	not provided	GUncertain significance
Select item 1526572	GRCh37/hg19 17p11.2-q11.2(chr17:21690653-28281232)	ABHD15, ALDOC +49 more	Copy number gain	not specified	GPathogenic
Select item 815920	GRCh37/hg19 17q11.1-11.2(chr17:25274363-28450707)x3	ABHD15, ALDOC +49 more	Copy number gain	not provided	GPathogenic
Select item 686144	GRCh37/hg19 17p11.2-q21.2(chr17:21690653-38772647)x3	AATF, ABHD15 +201 more	Copy number gain	not provided	GPathogenic
Select item 624545	GRCh37/hg19 17q11.1-11.2(chr17:25403446-31685464)x3	ABHD15, ADAP2 +80 more	Copy number gain	not provided	GLikely pathogenic
Select item 523166	GRCh37/hg19 17q11.1-11.2(chr17:25248166-30645676)x1	LYRM9, MIR144 +72 more	Copy number loss	Mitogen-activated protein kinase kinase inhibitor response	Gdrug response
Select item 441816	GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)x3	ALOX12, ALOX12B +1143 more	Copy number gain	See cases	GPathogenic
Select item 441815	GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)	SPEM2, TBCD +1143 more	Copy number gain	See cases	GPathogenic

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Items: 46