GOLGA6D[gene] and "single gene"[properties] - ClinVar

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Items: 36

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2242714	NM_001145224.3(GOLGA6D):c.379A>C (p.Ile127Leu)	GOLGA6D (I127L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2297794	NM_001145224.3(GOLGA6D):c.425A>G (p.Tyr142Cys)	GOLGA6D (Y142C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2342697	NM_001145224.3(GOLGA6D):c.446G>A (p.Arg149Gln)	GOLGA6D (R149Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2591911	NM_001145224.3(GOLGA6D):c.482G>A (p.Arg161His)	GOLGA6D (R161H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2225048	NM_001145224.3(GOLGA6D):c.503A>G (p.His168Arg)	GOLGA6D (H168R)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2357117	NM_001145224.3(GOLGA6D):c.521G>A (p.Arg174Gln)	GOLGA6D (R174Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2316742	NM_001145224.3(GOLGA6D):c.526C>G (p.Leu176Val)	GOLGA6D (L176V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2457144	NM_001145224.3(GOLGA6D):c.530G>C (p.Cys177Ser)	GOLGA6D (C177S)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2367591	NM_001145224.3(GOLGA6D):c.542C>T (p.Thr181Ile)	GOLGA6D (T181I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2462384	NM_001145224.3(GOLGA6D):c.595C>T (p.Arg199Trp)	GOLGA6D (R199W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3281901	NM_001145224.3(GOLGA6D):c.598C>T (p.Arg200Trp)	GOLGA6D (R200W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2353990	NM_001145224.3(GOLGA6D):c.620A>G (p.Glu207Gly)	GOLGA6D (E207G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2597641	NM_001145224.3(GOLGA6D):c.622C>T (p.Arg208Trp)	GOLGA6D (R208W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3100854	NM_001145224.3(GOLGA6D):c.688G>C (p.Asp230His)	GOLGA6D (D230H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2289760	NM_001145224.3(GOLGA6D):c.691G>A (p.Glu231Lys)	GOLGA6D (E231K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2327354	NM_001145224.3(GOLGA6D):c.727T>C (p.Trp243Arg)	GOLGA6D (W243R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2348258	NM_001145224.3(GOLGA6D):c.1553C>T (p.Thr518Met)	GOLGA6D (T518M)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2350724	NM_001145224.3(GOLGA6D):c.1583G>A (p.Arg528Gln)	GOLGA6D (R528Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3100853	NM_001145224.3(GOLGA6D):c.1592C>T (p.Thr531Met)	GOLGA6D (T531M)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2209277	NM_001145224.3(GOLGA6D):c.1625C>T (p.Ala542Val)	GOLGA6D (A542V)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2215321	NM_001145224.3(GOLGA6D):c.1649G>C (p.Arg550Thr)	GOLGA6D (R550T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2344553	NM_001145224.3(GOLGA6D):c.1666G>A (p.Val556Ile)	GOLGA6D (V556I)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2344190	NM_001145224.3(GOLGA6D):c.1671G>T (p.Gln557His)	GOLGA6D (Q557H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2529828	NM_001145224.3(GOLGA6D):c.1727G>T (p.Gly576Val)	GOLGA6D (G576V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2360004	NM_001145224.3(GOLGA6D):c.1744C>T (p.Arg582Trp)	GOLGA6D (R582W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2262509	NM_001145224.3(GOLGA6D):c.1754A>T (p.Glu585Val)	GOLGA6D (E585V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2545256	NM_001145224.3(GOLGA6D):c.1773G>C (p.Arg591Ser)	GOLGA6D (R591S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2359593	NM_001145224.3(GOLGA6D):c.1778C>T (p.Ala593Val)	GOLGA6D (A593V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2462537	NM_001145224.3(GOLGA6D):c.1792G>A (p.Glu598Lys)	GOLGA6D (E598K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2227314	NM_001145224.3(GOLGA6D):c.1793A>T (p.Glu598Val)	GOLGA6D (E598V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2321260	NM_001145224.3(GOLGA6D):c.1870C>T (p.Leu624Phe)	GOLGA6D (L624F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2400121	NM_001145224.3(GOLGA6D):c.1876G>A (p.Ala626Thr)	GOLGA6D (A626T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2568731	NM_001145224.3(GOLGA6D):c.1913C>T (p.Ala638Val)	GOLGA6D (A638V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2289184	NM_001145224.3(GOLGA6D):c.1919C>A (p.Ala640Asp)	GOLGA6D (A640D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2615629	NM_001145224.3(GOLGA6D):c.1984G>T (p.Val662Leu)	GOLGA6D (V662L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2355737	NM_001145224.3(GOLGA6D):c.2035A>C (p.Thr679Pro)	GOLGA6D (T679P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

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Items: 36