Related gene-specific medical variations for Gene (Select 4804) - ClinVar

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

Links from Gene

Items: 36

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3299610	NM_002507.4(NGFR):c.740C>T (p.Thr247Ile)	NGFR, NGFR-AS1 (T247I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3299609	NM_002507.4(NGFR):c.991G>A (p.Gly331Ser)	NGFR, NGFR-AS1 (G331S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3299607	NM_002507.4(NGFR):c.1216C>T (p.Arg406Cys)	NGFR, NGFR-AS1 (R406C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3199209	NM_002507.4(NGFR):c.862C>T (p.Arg288Trp)	NGFR, NGFR-AS1 (R288W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3199183	NM_002507.4(NGFR):c.533G>T (p.Arg178Leu)	NGFR, NGFR-AS1 (R178L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2607454	NM_002507.4(NGFR):c.1197C>G (p.Asp399Glu)	NGFR, NGFR-AS1 (D399E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2599881	NM_002507.4(NGFR):c.892G>A (p.Gly298Arg)	NGFR, NGFR-AS1 (G298R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2589198	NM_002507.4(NGFR):c.1151G>A (p.Arg384His)	NGFR, NGFR-AS1 (R384H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2546751	NM_002507.4(NGFR):c.752T>C (p.Leu251Pro)	NGFR, NGFR-AS1 (L251P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2522454	NM_002507.4(NGFR):c.592C>T (p.Arg198Trp)	NGFR, NGFR-AS1 (R198W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2484675	NM_002507.4(NGFR):c.628C>T (p.Pro210Ser)	NGFR, NGFR-AS1 (P210S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2469075	NM_002507.4(NGFR):c.553G>A (p.Asp185Asn)	NGFR, NGFR-AS1 (D185N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2402722	NM_002507.4(NGFR):c.348T>A (p.Asp116Glu)	NGFR, NGFR-AS1 (D116E)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2382150	NM_002507.4(NGFR):c.1198G>A (p.Ala400Thr)	NGFR, NGFR-AS1 (A400T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2381148	NM_002507.4(NGFR):c.385G>A (p.Glu129Lys)	NGFR, NGFR-AS1 (E129K)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2380184	NM_002507.4(NGFR):c.601C>G (p.Pro201Ala)	NGFR, NGFR-AS1 (P201A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2351700	NM_002507.4(NGFR):c.1184G>C (p.Ser395Thr)	NGFR, NGFR-AS1 (S395T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2325706	NM_002507.4(NGFR):c.328G>T (p.Ala110Ser)	NGFR, NGFR-AS1 (A110S)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2323035	NM_002507.4(NGFR):c.734G>A (p.Arg245Gln)	NGFR, NGFR-AS1 (R245Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2321006	NM_002507.4(NGFR):c.544C>T (p.Arg182Cys)	NGFR, NGFR-AS1 (R182C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2320093	NM_002507.4(NGFR):c.565G>C (p.Glu189Gln)	NGFR, NGFR-AS1 (E189Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2318967	NM_002507.4(NGFR):c.989A>G (p.Lys330Arg)	NGFR, NGFR-AS1 (K330R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2302837	NM_002507.4(NGFR):c.635C>A (p.Thr212Asn)	NGFR, NGFR-AS1 (T212N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2296521	NM_002507.4(NGFR):c.514G>C (p.Asp172His)	NGFR, NGFR-AS1 (D172H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2254360	NM_002507.4(NGFR):c.410C>G (p.Ser137Cys)	NGFR, NGFR-AS1 (S137C)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2247548	NM_002507.4(NGFR):c.892G>C (p.Gly298Arg)	NGFR, NGFR-AS1 (G298R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 790429	NM_002507.4(NGFR):c.1185C>T (p.Ser395=)	NGFR, NGFR-AS1	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 778131	NM_002507.4(NGFR):c.879G>A (p.Thr293=)	NGFR, NGFR-AS1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 746630	NM_002507.4(NGFR):c.318G>A (p.Val106=)	NGFR, NGFR-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 741401	NM_002507.4(NGFR):c.568+9G>A	NGFR, NGFR-AS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 739779	NM_002507.4(NGFR):c.630C>T (p.Pro210=)	NGFR, NGFR-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 736413	NM_002507.4(NGFR):c.1092C>T (p.Gly364=)	NGFR, NGFR-AS1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 724414	NM_002507.4(NGFR):c.395C>T (p.Ser132Leu)	NGFR, NGFR-AS1 (S132L)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GBenign
Select item 717409	NM_002507.4(NGFR):c.333C>T (p.Tyr111=)	NGFR, NGFR-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GBenign
Select item 717336	NM_002507.4(NGFR):c.1089G>A (p.Ala363=)	NGFR, NGFR-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 709492	NM_002507.4(NGFR):c.822-10C>G	NGFR, NGFR-AS1	Single nucleotide variant (intron variant)	not provided	GBenign

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Links from Gene

Items: 36