Related gene-specific medical variations for Gene (Select 751071) - ClinVar - NCBI

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Items: 16

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3078055	NM_001043229.2(CSKMT):c.91G>A (p.Ala31Thr)	CSKMT, LBHD1 +1 more (A31T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3078054	NM_001043229.2(CSKMT):c.674C>T (p.Pro225Leu)	CSKMT, LBHD1 (P225L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3078053	NM_001043229.2(CSKMT):c.512G>C (p.Arg171Pro)	CSKMT, LBHD1 (R171P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3078052	NM_001043229.2(CSKMT):c.511C>T (p.Arg171Trp)	CSKMT, LBHD1 (R171W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3078051	NM_001043229.2(CSKMT):c.398A>G (p.His133Arg)	LBHD1, CSKMT (H133R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3078050	NM_001043229.2(CSKMT):c.353G>T (p.Ser118Ile)	CSKMT, LBHD1 (S118I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3078048	NM_001043229.2(CSKMT):c.347T>G (p.Met116Arg)	CSKMT, LBHD1 (M116R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3078047	NM_001043229.2(CSKMT):c.268T>C (p.Cys90Arg)	CSKMT, LBHD1 +1 more (C90R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3078046	NM_001043229.2(CSKMT):c.248G>C (p.Gly83Ala)	CSKMT, LBHD1 +1 more (G83A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3078045	NM_001043229.2(CSKMT):c.233G>C (p.Arg78Pro)	CSKMT, LBHD1 +1 more (R78P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2623396	NM_001043229.2(CSKMT):c.650C>G (p.Thr217Ser)	CSKMT, LBHD1 (T217S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2612892	NM_024099.5(LBHD1):c.391G>A (p.Asp131Asn)	CSKMT, LBHD1 (D131N +7 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2570350	NM_001043229.2(CSKMT):c.556A>G (p.Arg186Gly)	CSKMT, LBHD1 (R186G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2487654	NM_024099.5(LBHD1):c.390G>C (p.Gln130His)	CSKMT, LBHD1 (Q155H +7 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2478688	NM_024099.5(LBHD1):c.346C>G (p.Pro116Ala)	CSKMT, LBHD1 (P142A +7 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 726523	NM_001043229.2(CSKMT):c.181C>T (p.Gln61Ter)	CSKMT, LBHD1 +1 more (Q61*)	Single nucleotide variant (nonsense +1 more)	not provided	GBenign