FAM131C[gene] and "single gene"[properties] - ClinVar

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Items: 23

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1287141	NM_182623.3(FAM131C):c.562+9C>T	FAM131C	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2352501	NM_182623.3(FAM131C):c.553C>G (p.Gln185Glu)	FAM131C (Q185E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1240760	NM_182623.3(FAM131C):c.543A>G (p.Gln181=)	FAM131C	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2253406	NM_182623.3(FAM131C):c.529G>A (p.Glu177Lys)	FAM131C (E177K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2568977	NM_182623.3(FAM131C):c.503C>T (p.Ser168Leu)	FAM131C (S168L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2471292	NM_182623.3(FAM131C):c.437C>A (p.Ala146Asp)	FAM131C (A146D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2244280	NM_182623.3(FAM131C):c.430C>A (p.Arg144Ser)	FAM131C (R144S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3091783	NM_182623.3(FAM131C):c.428T>C (p.Leu143Pro)	FAM131C (L143P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3277147	NM_182623.3(FAM131C):c.404A>G (p.His135Arg)	FAM131C (H135R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3091782	NM_182623.3(FAM131C):c.400G>A (p.Glu134Lys)	FAM131C (E134K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3091781	NM_182623.3(FAM131C):c.398A>C (p.Asp133Ala)	FAM131C (D133A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2248270	NM_182623.3(FAM131C):c.398A>G (p.Asp133Gly)	FAM131C (D133G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2347048	NM_182623.3(FAM131C):c.394G>A (p.Glu132Lys)	FAM131C (E132K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2402310	NM_182623.3(FAM131C):c.340A>G (p.Ile114Val)	FAM131C (I114V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2226579	NM_182623.3(FAM131C):c.326G>A (p.Arg109His)	FAM131C (R109H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3091780	NM_182623.3(FAM131C):c.308C>T (p.Thr103Met)	FAM131C (T103M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3091779	NM_182623.3(FAM131C):c.221G>A (p.Arg74His)	FAM131C (R74H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3277146	NM_182623.3(FAM131C):c.177G>T (p.Arg59Ser)	FAM131C (R59S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3091778	NM_182623.3(FAM131C):c.150G>A (p.Met50Ile)	FAM131C (M50I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2638358	NM_182623.3(FAM131C):c.141C>T (p.Asp47=)	FAM131C	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2594993	NM_182623.3(FAM131C):c.131T>C (p.Ile44Thr)	FAM131C (I44T)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2263072	NM_182623.3(FAM131C):c.116C>A (p.Ala39Asp)	FAM131C (A39D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2261932	NM_182623.3(FAM131C):c.100C>T (p.Arg34Cys)	FAM131C (R34C)	Single nucleotide variant (missense variant)	not specified	GLikely benign

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Items: 23