SSBP1[gene] and "single gene"[properties] - ClinVar - NCBI

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Items: 13

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3025308	NM_003143.3(SSBP1):c.25-7T>A	SSBP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2583053	NM_003143.3(SSBP1):c.25G>A (p.Val9Ile)	SSBP1 (V9I)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2367275	NM_003143.3(SSBP1):c.32G>A (p.Arg11His)	SSBP1 (R11H)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 2610031	NM_003143.3(SSBP1):c.35A>G (p.Gln12Arg)	SSBP1 (Q12R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3170299	NM_003143.3(SSBP1):c.61A>T (p.Thr21Ser)	SSBP1 (T21S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 977502	NM_003143.3(SSBP1):c.113G>A (p.Arg38Gln)	SSBP1 (R38Q)	Single nucleotide variant (missense variant +1 more)	Cone-rod dystrophy	GPathogenic
Select item 977505	NM_003143.3(SSBP1):c.119G>T (p.Gly40Val)	SSBP1 (G40V)	Single nucleotide variant (missense variant +1 more)	Optic atrophy 13 with retinal and foveal abnormalities	GLikely pathogenic
Select item 932474	NM_003143.3(SSBP1):c.166A>G (p.Ile56Val)	SSBP1 (I56V)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3322775	NM_003143.3(SSBP1):c.203G>C (p.Gly68Ala)	SSBP1 (G68A)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2620877	NM_003143.3(SSBP1):c.259A>C (p.Ile87Leu)	SSBP1 (I87L)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 977503	NM_003143.3(SSBP1):c.320G>A (p.Arg107Gln)	SSBP1 (R107Q)	Single nucleotide variant (missense variant +1 more)	Optic atrophy 13 with retinal and foveal abnormalities +1 more	GPathogenic
Select item 977506	NM_003143.3(SSBP1):c.394A>G (p.Ile132Val)	SSBP1 (I132V)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 977504	NM_003143.3(SSBP1):c.422G>A (p.Ser141Asn)	SSBP1 (S141N)	Single nucleotide variant (missense variant +1 more)	Optic atrophy 13 with retinal and foveal abnormalities	GPathogenic