"Ambry Genetics"[submitter] AND "GFUS"[gene] - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 34

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2460695	NM_003313.4(GFUS):c.958C>G (p.Arg320Gly)	GFUS (R249G +6 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3099530	NM_003313.4(GFUS):c.949G>C (p.Glu317Gln)	GFUS (E323Q +6 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2557707	NM_003313.4(GFUS):c.911C>T (p.Ala304Val)	GFUS (A274V +6 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3099529	NM_003313.4(GFUS):c.898C>G (p.Pro300Ala)	GFUS (P270A +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3099528	NM_003313.4(GFUS):c.890G>A (p.Arg297Gln)	GFUS (R226Q +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3099527	NM_003313.4(GFUS):c.848C>T (p.Thr283Ile)	GFUS (T291I +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3099526	NM_003313.4(GFUS):c.818C>T (p.Thr273Ile)	GFUS (T202I +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3099525	NM_003313.4(GFUS):c.797A>G (p.His266Arg)	GFUS (H311R +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3099524	NM_003313.4(GFUS):c.796C>T (p.His266Tyr)	GFUS (H195Y +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2532581	NM_003313.4(GFUS):c.773C>T (p.Ala258Val)	GFUS (A228V +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2465724	NM_003313.4(GFUS):c.769G>A (p.Glu257Lys)	GFUS (E186K +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3099523	NM_003313.4(GFUS):c.734G>A (p.Gly245Asp)	GFUS (G290D +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2595691	NM_003313.4(GFUS):c.694C>T (p.Arg232Trp)	GFUS (R255W +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3099522	NM_003313.4(GFUS):c.640C>T (p.Arg214Trp)	GFUS (R143W +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3099521	NM_003313.4(GFUS):c.634A>G (p.Asn212Asp)	GFUS (N182D +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3099520	NM_003313.4(GFUS):c.624G>C (p.Trp208Cys)	GFUS (W178C +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3099519	NM_003313.4(GFUS):c.608C>T (p.Ser203Leu)	GFUS (S211L +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2541174	NM_003313.4(GFUS):c.566C>T (p.Pro189Leu)	GFUS (P118L +5 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2461862	NM_003313.4(GFUS):c.547G>A (p.Glu183Lys)	GFUS (E112K +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2455496	NM_003313.4(GFUS):c.475C>G (p.Gln159Glu)	GFUS (Q88E +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3099518	NM_003313.4(GFUS):c.448A>G (p.Ile150Val)	GFUS (I158V +5 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2486310	NM_003313.4(GFUS):c.439A>G (p.Lys147Glu)	GFUS (K192E +5 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3099517	NM_003313.4(GFUS):c.409C>G (p.His137Asp)	GFUS (H145D +5 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3099516	NM_003313.4(GFUS):c.398A>G (p.Asn133Ser)	GFUS (N133S +5 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3099515	NM_003313.4(GFUS):c.374C>T (p.Pro125Leu)	GFUS (P131L +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3281272	NM_003313.4(GFUS):c.320G>A (p.Arg107His)	GFUS (R113H +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2460839	NM_003313.4(GFUS):c.299C>T (p.Ser100Leu)	GFUS (S100L +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3281274	NM_003313.4(GFUS):c.296A>G (p.His99Arg)	GFUS (H122R +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3099514	NM_003313.4(GFUS):c.289G>A (p.Val97Ile)	GFUS (V105I +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3099513	NM_003313.4(GFUS):c.240C>G (p.Ile80Met)	GFUS (I125M +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3099512	NM_003313.4(GFUS):c.196G>A (p.Val66Ile)	GFUS (V66I +4 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3099511	NM_003313.4(GFUS):c.163C>T (p.Arg55Cys)	GFUS (R78C +4 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3281273	NM_003313.4(GFUS):c.137C>T (p.Ala46Val)	GFUS (A52V +4 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3099510	NM_003313.4(GFUS):c.128C>T (p.Ser43Phe)	GFUS (S43F +3 more)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Search results

Items: 34