NFAM1[gene] and "single gene"[properties] - ClinVar

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Items: 28

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 787508	NM_145912.8(NFAM1):c.793C>T (p.Leu265=)	NFAM1	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GBenign
Select item 711090	NM_145912.8(NFAM1):c.782G>C (p.Gly261Ala)	NFAM1 (G261A +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GBenign
Select item 2401350	NM_145912.8(NFAM1):c.761C>T (p.Pro254Leu)	NFAM1 (P202L +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GLikely benign
Select item 2321795	NM_145912.8(NFAM1):c.703G>A (p.Glu235Lys)	NFAM1 (R197Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3299455	NM_145912.8(NFAM1):c.685G>A (p.Glu229Lys)	NFAM1 (E177K +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3195890	NM_145912.8(NFAM1):c.677G>A (p.Arg226His)	NFAM1 (R226H +1 more)	Single nucleotide variant (synonymous variant +1 more)	not specified	GUncertain significance
Select item 3195886	NM_145912.8(NFAM1):c.622G>T (p.Ala208Ser)	NFAM1 (A156S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2481090	NM_145912.8(NFAM1):c.575G>A (p.Arg192Gln)	NFAM1 (R140Q +1 more)	Single nucleotide variant (synonymous variant +1 more)	not specified	GLikely benign
Select item 3299453	NM_145912.8(NFAM1):c.574C>T (p.Arg192Trp)	NFAM1 (R192W +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2550234	NM_145912.8(NFAM1):c.569G>A (p.Arg190Gln)	NFAM1 (R190Q +1 more)	Single nucleotide variant (synonymous variant +1 more)	not specified	GLikely benign
Select item 777728	NM_145912.8(NFAM1):c.561C>G (p.Asn187Lys)	NFAM1 (N135K +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 3299452	NM_145912.8(NFAM1):c.542C>T (p.Thr181Met)	NFAM1 (T129M +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 769482	NM_145912.8(NFAM1):c.474G>A (p.Pro158=)	NFAM1	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 2247367	NM_145912.8(NFAM1):c.473C>T (p.Pro158Leu)	NFAM1 (P106L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3195867	NM_145912.8(NFAM1):c.416C>T (p.Thr139Met)	NFAM1 (T139M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 709526	NM_145912.8(NFAM1):c.409C>T (p.His137Tyr)	NFAM1 (H85Y +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 3195863	NM_145912.8(NFAM1):c.401A>G (p.His134Arg)	NFAM1 (H82R +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3195859	NM_145912.8(NFAM1):c.298C>A (p.His100Asn)	NFAM1 (H48N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2533225	NM_145912.8(NFAM1):c.275G>A (p.Ser92Asn)	NFAM1 (S92N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2406635	NM_145912.8(NFAM1):c.266G>A (p.Gly89Glu)	NFAM1 (G37E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2301503	NM_145912.8(NFAM1):c.251A>T (p.His84Leu)	NFAM1 (H84L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2341131	NM_145912.8(NFAM1):c.181A>G (p.Ile61Val)	NFAM1 (I9V +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2247205	NM_145912.8(NFAM1):c.103G>A (p.Gly35Arg)	NFAM1 (G35R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3195897	NM_145912.8(NFAM1):c.88G>A (p.Val30Met)	NFAM1 (V30M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2593254	NM_145912.8(NFAM1):c.50C>T (p.Pro17Leu)	NFAM1 (P17L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2344171	NM_145912.8(NFAM1):c.47G>A (p.Arg16His)	NFAM1 (R16H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2235156	NM_145912.8(NFAM1):c.25C>T (p.Arg9Trp)	NFAM1 (R9W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3195840	NM_145912.8(NFAM1):c.20G>A (p.Arg7Lys)	NFAM1 (R7K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance

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Items: 28