"Ambry Genetics"[submitter] AND "GOLPH3"[gene] - ClinVar - NCBI

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Items: 11

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3100974	NM_022130.4(GOLPH3):c.893A>C (p.Lys298Thr)	GOLPH3, LOC126807344 (K298T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3281973	NM_022130.4(GOLPH3):c.881C>T (p.Ala294Val)	GOLPH3, LOC126807344 (A294V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3100973	NM_022130.4(GOLPH3):c.805C>T (p.Arg269Trp)	GOLPH3, LOC126807344 (R269W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2266560	NM_022130.4(GOLPH3):c.794C>T (p.Thr265Ile)	GOLPH3, LOC126807344 (T265I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2328153	NM_022130.4(GOLPH3):c.780G>T (p.Gln260His)	GOLPH3, LOC126807344 (Q260H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2335703	NM_022130.4(GOLPH3):c.763C>T (p.Pro255Ser)	GOLPH3, LOC126807344 (P255S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2240434	NM_022130.4(GOLPH3):c.760G>C (p.Ala254Pro)	GOLPH3, LOC126807344 (A254P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3281972	NM_022130.4(GOLPH3):c.691C>T (p.Arg231Cys)	GOLPH3, LOC126807344 (R231C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3100972	NM_022130.4(GOLPH3):c.634C>T (p.Arg212Cys)	GOLPH3, LOC126807344 (R212C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3281974	NM_022130.4(GOLPH3):c.374A>T (p.Asp125Val)	GOLPH3 (D125V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2529012	NM_022130.4(GOLPH3):c.284T>C (p.Ile95Thr)	GOLPH3 (I95T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance