Related gene-specific medical variations for Gene (Select 6450) - ClinVar

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Items: 20

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3318037	NM_007341.2(SH3BGR):c.34C>T (p.Leu12Phe)	GET1-SH3BGR, SH3BGR (L12F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3318036	NM_007341.3(SH3BGR):c.-54G>A	GET1-SH3BGR, SH3BGR	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GLikely benign
Select item 3318035	NM_007341.3(SH3BGR):c.358G>A (p.Glu120Lys)	GET1-SH3BGR, SH3BGR (E72K +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3161222	NM_007341.3(SH3BGR):c.-120C>T	GET1-SH3BGR, SH3BGR	Single nucleotide variant (intron variant +1 more)	not specified	GUncertain significance
Select item 3161221	NM_007341.3(SH3BGR):c.86C>T (p.Ala29Val)	GET1-SH3BGR, SH3BGR (A126V +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3161220	NM_007341.3(SH3BGR):c.2T>C (p.Met1Thr)	GET1-SH3BGR, SH3BGR (M1T)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2609683	NM_007341.3(SH3BGR):c.320A>G (p.Glu107Gly)	GET1-SH3BGR, SH3BGR (E107G +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2602939	NM_007341.3(SH3BGR):c.130G>A (p.Asp44Asn)	GET1-SH3BGR, SH3BGR (D44N +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2527375	NM_007341.3(SH3BGR):c.44C>T (p.Ala15Val)	GET1-SH3BGR, SH3BGR (A15V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2488716	NM_007341.3(SH3BGR):c.361G>A (p.Gly121Ser)	GET1-SH3BGR, SH3BGR (G218S +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2470063	NM_007341.3(SH3BGR):c.-9A>C	GET1-SH3BGR, SH3BGR	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2464206	NM_007341.2(SH3BGR):c.47G>A (p.Arg16Gln)	GET1-SH3BGR, SH3BGR (R16Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2404282	NM_007341.3(SH3BGR):c.451A>G (p.Met151Val)	GET1-SH3BGR, SH3BGR (M248V +4 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2381000	NM_007341.3(SH3BGR):c.470A>C (p.Glu157Ala)	GET1-SH3BGR, SH3BGR (E109A +4 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2332914	NM_007341.2(SH3BGR):c.55C>T (p.Arg19Trp)	GET1-SH3BGR, SH3BGR (R19W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2323900	NM_007341.3(SH3BGR):c.335G>A (p.Gly112Asp)	GET1-SH3BGR, SH3BGR (G112D +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2306364	NM_007341.3(SH3BGR):c.301C>G (p.Pro101Ala)	GET1-SH3BGR, SH3BGR (P101A +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2302048	NM_007341.3(SH3BGR):c.-96C>G	GET1-SH3BGR, SH3BGR	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2225174	NM_007341.3(SH3BGR):c.63A>T (p.Gln21His)	GET1-SH3BGR, SH3BGR (Q21H +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2208478	NM_007341.3(SH3BGR):c.67G>A (p.Val23Ile)	GET1-SH3BGR, SH3BGR (V120I +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance

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Links from Gene

Items: 20