"Illumina Laboratory Services, Illumina"[submitter] AND "DHH"[gene] - ClinVar

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Items: 30

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 883846	NM_021044.4(DHH):c.*427C>T	DHH	Single nucleotide variant (3 prime UTR variant)	46,XY sex reversal 7	GUncertain significance
Select item 309093	NM_021044.4(DHH):c.*401G>T	DHH	Single nucleotide variant (3 prime UTR variant)	46,XY sex reversal 7	GUncertain significance
Select item 309094	NM_021044.4(DHH):c.*219G>A	DHH	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GLikely benign
Select item 309095	NM_021044.4(DHH):c.*159G>T	DHH	Single nucleotide variant (3 prime UTR variant)	46,XY sex reversal 7	GUncertain significance
Select item 880554	NM_021044.4(DHH):c.*154G>T	DHH	Single nucleotide variant (3 prime UTR variant)	46,XY sex reversal 7	GUncertain significance
Select item 309096	NM_021044.4(DHH):c.*110G>C	DHH	Single nucleotide variant (3 prime UTR variant)	46,XY sex reversal 7	GUncertain significance
Select item 309097	NM_021044.4(DHH):c.*87G>T	DHH	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GBenign
Select item 880555	NM_021044.4(DHH):c.*65G>T	DHH	Single nucleotide variant (3 prime UTR variant)	46,XY sex reversal 7	GUncertain significance
Select item 309098	NM_021044.4(DHH):c.1134T>A (p.Thr378=)	DHH	Single nucleotide variant (synonymous variant)	46,XY sex reversal 7	GConflicting classifications of pathogenicity
Select item 880556	NM_021044.4(DHH):c.953G>C (p.Arg318Pro)	DHH (R318P)	Single nucleotide variant (missense variant)	46,XY sex reversal 7	GUncertain significance
Select item 309099	NM_021044.4(DHH):c.926G>T (p.Arg309Leu)	DHH (R309L)	Single nucleotide variant (missense variant)	46,XY sex reversal 7 +1 more	GUncertain significance
Select item 309100	NM_021044.4(DHH):c.726C>T (p.Phe242=)	DHH	Single nucleotide variant (synonymous variant)	46,XY sex reversal 7	GUncertain significance
Select item 881975	NM_021044.4(DHH):c.656T>G (p.Leu219Arg)	DHH (L219R)	Single nucleotide variant (missense variant)	46,XY sex reversal 7	GUncertain significance
Select item 881976	NM_021044.4(DHH):c.630C>A (p.Ser210Arg)	DHH (S210R)	Single nucleotide variant (missense variant)	46,XY sex reversal 7	GUncertain significance
Select item 309101	NM_021044.4(DHH):c.587C>A (p.Ala196Glu)	DHH (A196E)	Single nucleotide variant (missense variant)	46,XY sex reversal 7	GUncertain significance
Select item 309102	NM_021044.4(DHH):c.576G>C (p.Leu192=)	DHH	Single nucleotide variant (synonymous variant)	46,XY DSD/46,XY CGD	GUncertain significance
Select item 881977	NM_021044.4(DHH):c.565+13G>A	DHH	Single nucleotide variant (intron variant)	46,XY sex reversal 7	GUncertain significance
Select item 309103	NM_021044.4(DHH):c.543C>T (p.His181=)	DHH	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign
Select item 881978	NM_021044.4(DHH):c.536G>A (p.Arg179His)	DHH (R179H)	Single nucleotide variant (missense variant)	46,XY sex reversal 7	GUncertain significance
Select item 309104	NM_021044.4(DHH):c.367C>T (p.Leu123=)	DHH	Single nucleotide variant (synonymous variant)	46,XY sex reversal 7	GUncertain significance
Select item 883140	NM_021044.4(DHH):c.305G>A (p.Arg102His)	DHH (R102H)	Single nucleotide variant (missense variant)	46,XY sex reversal 7 +1 more	GUncertain significance
Select item 309105	NM_021044.4(DHH):c.234G>A (p.Val78=)	DHH	Single nucleotide variant (synonymous variant)	46,XY sex reversal 7 +2 more	GConflicting classifications of pathogenicity
Select item 772189	NM_021044.4(DHH):c.228C>T (p.Asp76=)	DHH	Single nucleotide variant (synonymous variant)	46,XY sex reversal 7	GConflicting classifications of pathogenicity
Select item 883141	NM_021044.4(DHH):c.217C>G (p.Arg73Gly)	DHH (R73G)	Single nucleotide variant (missense variant)	46,XY sex reversal 7	GUncertain significance
Select item 883142	NM_021044.4(DHH):c.135C>T (p.Tyr45=)	DHH	Single nucleotide variant (synonymous variant)	46,XY sex reversal 7	GUncertain significance
Select item 309106	NM_021044.4(DHH):c.-18C>T	DHH	Single nucleotide variant (5 prime UTR variant)	46,XY sex reversal 7	GBenign
Select item 883143	NM_021044.4(DHH):c.-53G>A	DHH	Single nucleotide variant (5 prime UTR variant)	46,XY sex reversal 7	GUncertain significance
Select item 309107	NM_021044.4(DHH):c.-254G>A	DHH	Single nucleotide variant (5 prime UTR variant)	46,XY sex reversal 7	GUncertain significance
Select item 309108	NM_021044.4(DHH):c.-255T>C	DHH	Single nucleotide variant (5 prime UTR variant)	not provided +1 more	GBenign
Select item 309109	NM_021044.4(DHH):c.-256C>G	DHH	Single nucleotide variant (5 prime UTR variant)	46,XY sex reversal 7	GUncertain significance

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Items: 30