Related gene-specific medical variations for Gene (Select 55339) - ClinVar

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Links from Gene

Items: 20

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3317878	NM_032740.4(SFT2D3):c.118G>C (p.Ala40Pro)	LOC129934732, SFT2D3 +1 more (A40P)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3317877	NM_032740.4(SFT2D3):c.62C>A (p.Ala21Glu)	LOC129934732, SFT2D3 +1 more (A21E)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3317876	NM_032740.4(SFT2D3):c.257T>A (p.Leu86Gln)	LOC129934732, SFT2D3 +1 more (L86Q)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3160947	NM_032740.4(SFT2D3):c.622G>A (p.Gly208Ser)	LOC129934732, SFT2D3 +1 more (G208S)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3160945	NM_032740.4(SFT2D3):c.347C>G (p.Ser116Trp)	LOC129934732, SFT2D3 +1 more (S116W)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2590438	NM_032740.4(SFT2D3):c.415G>A (p.Glu139Lys)	LOC129934732, SFT2D3 +1 more (E139K)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2537398	NM_032740.4(SFT2D3):c.547G>A (p.Ala183Thr)	LOC129934732, SFT2D3 +1 more (A183T)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2535178	NM_032740.4(SFT2D3):c.308T>C (p.Leu103Pro)	LOC129934732, SFT2D3 +1 more (L103P)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2482222	NM_032740.4(SFT2D3):c.577G>A (p.Gly193Ser)	LOC129934732, SFT2D3 +1 more (G193S)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2381945	NM_032740.4(SFT2D3):c.493A>G (p.Ser165Gly)	LOC129934732, SFT2D3 +1 more (S165G)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2373752	NM_032740.4(SFT2D3):c.58C>T (p.Pro20Ser)	LOC129934732, SFT2D3 +1 more (P20S)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2365079	NM_032740.4(SFT2D3):c.506C>G (p.Thr169Arg)	LOC129934732, SFT2D3 +1 more (T169R)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2348877	NM_032740.4(SFT2D3):c.344G>T (p.Gly115Val)	LOC129934732, SFT2D3 +1 more (G115V)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2348591	NM_032740.4(SFT2D3):c.487C>T (p.Leu163Phe)	LOC129934732, SFT2D3 +1 more (L163F)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2310911	NM_032740.4(SFT2D3):c.5C>T (p.Ala2Val)	SFT2D3, WDR33 (A2V)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2274584	NM_032740.4(SFT2D3):c.548C>T (p.Ala183Val)	LOC129934732, SFT2D3 +1 more (A183V)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2262521	NM_032740.4(SFT2D3):c.26A>T (p.Gln9Leu)	SFT2D3, WDR33 (Q9L)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2257613	NM_032740.4(SFT2D3):c.379C>G (p.Arg127Gly)	LOC129934732, SFT2D3 +1 more (R127G)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2220186	NM_018383.5(WDR33):c.1537G>A (p.Val513Ile)	LOC126806344, WDR33 (V513I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2217218	NM_032740.4(SFT2D3):c.67G>A (p.Ala23Thr)	LOC129934732, SFT2D3 +1 more (A23T)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance

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Links from Gene

Items: 20