DHRS7B[gene] - ClinVar

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Items: 35

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 60135	GRCh38/hg38 17p11.2(chr17:19070690-21619442)x3	AKAP10, ALDH3A1 +116 more	Copy number gain	See cases	GUncertain significance
Select item 154666	GRCh38/hg38 17p11.2(chr17:19744033-21598663)x3	AKAP10, ALDH3A1 +67 more	Copy number gain	See cases	GUncertain significance
Select item 59297	GRCh38/hg38 17p11.2(chr17:20879426-22533437)x3	CCDC144NL-AS1, DHRS7B +41 more	Copy number gain	See cases	GUncertain significance
Select item 57506	GRCh38/hg38 17p11.2(chr17:20935766-21621469)x1	DHRS7B, KCNJ12 +31 more	Copy number loss	See cases	GUncertain significance
Select item 3082116	NM_015510.5(DHRS7B):c.55A>G (p.Ile19Val)	DHRS7B (I4V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2647573	NM_015510.5(DHRS7B):c.105C>T (p.Phe35=)	DHRS7B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2336255	NM_015510.5(DHRS7B):c.109C>G (p.Leu37Val)	DHRS7B (L22V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2210676	NM_015510.5(DHRS7B):c.118C>G (p.Leu40Val)	DHRS7B (L25V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2296494	NM_015510.5(DHRS7B):c.126G>C (p.Gln42His)	DHRS7B (Q42H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3082112	NM_015510.5(DHRS7B):c.133C>T (p.Arg45Cys)	DHRS7B (R45C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2291277	NM_015510.5(DHRS7B):c.277A>G (p.Ile93Val)	DHRS7B (I89V +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3082114	NM_015510.5(DHRS7B):c.404A>G (p.Tyr135Cys)	DHRS7B (Y133C +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2225193	NM_015510.5(DHRS7B):c.415C>T (p.Leu139Phe)	DHRS7B (L88F +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3082115	NM_015510.5(DHRS7B):c.508C>T (p.Pro170Ser)	DHRS7B (P119S +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3082117	NM_015510.5(DHRS7B):c.637G>A (p.Ala213Thr)	DHRS7B (A162T +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3082118	NM_015510.5(DHRS7B):c.664C>T (p.Arg222Cys)	DHRS7B (R171C +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2275160	NM_015510.5(DHRS7B):c.691G>A (p.Glu231Lys)	DHRS7B (E216K +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3082119	NM_015510.5(DHRS7B):c.730C>T (p.Leu244Phe)	DHRS7B (L242F +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2220645	NM_015510.5(DHRS7B):c.752C>T (p.Ala251Val)	DHRS7B (A200V +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3082121	NM_015510.5(DHRS7B):c.755A>G (p.Asp252Gly)	DHRS7B (D201G +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2538415	NM_015510.5(DHRS7B):c.808G>T (p.Val270Leu)	DHRS7B (V255L +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3271822	NM_015510.5(DHRS7B):c.892G>A (p.Val298Ile)	DHRS7B (V247I +4 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2552081	NM_015510.5(DHRS7B):c.895T>C (p.Tyr299His)	DHRS7B (Y248H +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3271820	NM_015510.5(DHRS7B):c.913C>G (p.Pro305Ala)	DHRS7B (P290A +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3082122	NM_015510.5(DHRS7B):c.956A>C (p.Glu319Ala)	DHRS7B (E315A +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3063486	GRCh37/hg19 17p13.3-11.2(chr17:525-21510992)x3	ABR, ACADVL +329 more	Copy number gain	not specified	GPathogenic
Select item 2685057	GRCh37/hg19 17p11.2-11.1(chr17:20675399-22227823)x4	DHRS7B, KCNJ12 +6 more	Copy number gain	not provided	GUncertain significance
Select item 2684839	GRCh37/hg19 17p11.2-11.1(chr17:18614422-22227823)x3	AKAP10, ALDH3A1 +29 more	Copy number gain	not provided	GUncertain significance
Select item 1703602	Single allele	ADORA2B, AKAP10 +78 more	Complex	PMP22-RAI1 contiguous gene duplication syndrome	GPathogenic
Select item 564421	GRCh37/hg19 17p11.2-11.1(chr17:20465210-22261792)x3	USP22, MTRNR2L1 +7 more	Copy number gain	not provided	GUncertain significance
Select item 442933	GRCh37/hg19 17p11.2(chr17:17200426-21900910)x1	B9D1, AKAP10 +51 more	Copy number loss	See cases	GPathogenic
Select item 442185	GRCh37/hg19 17p11.2(chr17:20741728-22060092)x3	DHRS7B, KCNJ12 +6 more	Copy number gain	See cases	GUncertain significance
Select item 441980	GRCh37/hg19 17p11.2(chr17:20775032-21545209)x1	DHRS7B, KCNJ12 +5 more	Copy number loss	See cases	GUncertain significance
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: 35