Related gene-specific medical variations for Gene (Select 63901) - ClinVar

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Items: 20

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2882598	NM_001312909.2(FAM111A):c.999G>A (p.Thr333=)	FAM111A, LOC130005740	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2870415	NM_001312909.2(FAM111A):c.994A>G (p.Thr332Ala)	FAM111A, LOC130005740 (T332A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2842532	NM_001312909.2(FAM111A):c.1010del (p.Val337fs)	FAM111A, LOC130005740 (V337fs)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 2709745	NM_001312909.2(FAM111A):c.942C>T (p.Phe314=)	FAM111A, LOC130005740	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2689039	NM_001312909.2(FAM111A):c.886A>G (p.Ile296Val)	FAM111A (I296V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2441336	NM_001312909.2(FAM111A):c.1738T>C (p.Ser580Pro)	FAM111A (S580P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2441335	NM_001312909.2(FAM111A):c.1515dup (p.Ala506fs)	FAM111A (A506fs)	Duplication (frameshift variant)	not provided	GUncertain significance
Select item 2139067	NM_001312909.2(FAM111A):c.1028C>T (p.Ser343Leu)	FAM111A, LOC130005740 (S343L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2090145	NM_001312909.2(FAM111A):c.945G>A (p.Lys315=)	FAM111A, LOC130005740	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2088390	NM_001312909.2(FAM111A):c.1035A>C (p.Lys345Asn)	FAM111A, LOC130005740 (K345N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2052782	NM_001312909.2(FAM111A):c.990T>C (p.His330=)	FAM111A, LOC130005740	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1990149	NM_001312909.2(FAM111A):c.1037T>C (p.Val346Ala)	FAM111A, LOC130005740 (V346A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1698593	NM_001312909.2(FAM111A):c.1019dup (p.Asn340fs)	FAM111A, LOC130005740 (N340fs)	Duplication (frameshift variant)	not specified +1 more	GUncertain significance
Select item 1324371	NM_001312909.2(FAM111A):c.1685A>C (p.Tyr562Ser)	FAM111A (Y562S)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 982416	NM_001312909.2(FAM111A):c.931A>T (p.Ile311Phe)	FAM111A, LOC130005740 (I311F)	Single nucleotide variant (missense variant)	Osteocraniostenosis	GLikely pathogenic
Select item 930855	NM_001312909.2(FAM111A):c.1138A>G (p.Ile380Val)	FAM111A (I380V)	Single nucleotide variant (missense variant)	Osteocraniostenosis	GUncertain significance
Select item 748187	NM_001312909.2(FAM111A):c.1029G>A (p.Ser343=)	FAM111A, LOC130005740	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 720474	NM_001312909.2(FAM111A):c.1035AGT[1] (p.Val347del)	FAM111A, LOC130005740 (V347del)	Microsatellite (inframe_deletion)	not provided	GLikely benign
Select item 56814	NM_001312909.2(FAM111A):c.1012A>G (p.Thr338Ala)	FAM111A, LOC130005740 (T338A)	Single nucleotide variant (missense variant)	Osteocraniostenosis	GPathogenic/Likely pathogenic
Select item 56811	NM_001312909.2(FAM111A):c.1020TTC[2] (p.Ser343del)	FAM111A, LOC130005740 (S343del)	Microsatellite (inframe_deletion)	Autosomal dominant Kenny-Caffey syndrome +2 more	GPathogenic/Likely pathogenic

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Items: 20