"Ambry Genetics"[submitter] AND "PRMT5-DT"[gene] - ClinVar - NCBI

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Items: 16

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2390190	NM_001166269.2(HAUS4):c.1048A>C (p.Asn350His)	HAUS4, PRMT5-DT (N305H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3104332	NM_001166269.2(HAUS4):c.976T>G (p.Ser326Ala)	HAUS4, PRMT5-DT (S326A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2461699	NM_001166269.2(HAUS4):c.914G>A (p.Arg305His)	HAUS4, PRMT5-DT (R260H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3283530	NM_001166269.2(HAUS4):c.899G>A (p.Arg300His)	HAUS4, PRMT5-DT (R255H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2402578	NM_001166269.2(HAUS4):c.868A>T (p.Thr290Ser)	HAUS4, PRMT5-DT (T245S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2556862	NM_001166269.2(HAUS4):c.664G>A (p.Glu222Lys)	HAUS4, PRMT5-DT (E177K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3283531	NM_001166269.2(HAUS4):c.580G>A (p.Val194Met)	HAUS4, PRMT5-DT (V149M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2455169	NM_001166269.2(HAUS4):c.569A>C (p.Asp190Ala)	HAUS4, PRMT5-DT (D145A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2251009	NM_001166269.2(HAUS4):c.533C>T (p.Thr178Ile)	HAUS4, PRMT5-DT (T178I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3104331	NM_001166269.2(HAUS4):c.477G>C (p.Trp159Cys)	HAUS4, PRMT5-DT (W114C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2288033	NM_001166269.2(HAUS4):c.439C>T (p.Leu147Phe)	HAUS4, PRMT5-DT (L147F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3104330	NM_001166269.2(HAUS4):c.434C>T (p.Ala145Val)	HAUS4, PRMT5-DT (A145V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2330912	NM_001166269.2(HAUS4):c.392G>A (p.Ser131Asn)	HAUS4, PRMT5-DT (S131N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3283533	NM_001166269.2(HAUS4):c.337G>A (p.Glu113Lys)	HAUS4, PRMT5-DT (E113K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2619774	NM_001166269.2(HAUS4):c.310G>T (p.Val104Leu)	HAUS4, PRMT5-DT (V104L)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3283532	NM_001166269.2(HAUS4):c.266A>C (p.Gln89Pro)	HAUS4, PRMT5-DT (Q89P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance