ClinVar for MedGen (Select 892680) - ClinVar - NCBI

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Items: 9

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1185003	NM_024704.5(KIF16B):c.3773_3774del (p.Ala1258fs)	KIF16B (A1207fs +1 more)	Deletion (frameshift variant)	Muscular atrophy	GUncertain significance
Select item 992817	NM_015295.3(SMCHD1):c.3660_3661del (p.Gly1221fs)	SMCHD1 (G1221fs)	Microsatellite (frameshift variant)	Muscular atrophy	GPathogenic
Select item 977156	NM_000069.3(CACNA1S):c.2366G>A (p.Arg789His)	CACNA1S (R789H)	Single nucleotide variant (missense variant)	Congenital myopathy 18 +6 more	GConflicting classifications of pathogenicity
Select item 633780	NM_012465.4(TLL2):c.1609C>T (p.His537Tyr)	TLL2 (H537Y)	Single nucleotide variant (missense variant)	Proximal amyotrophy +6 more	GUncertain significance
Select item 633779	NM_012465.4(TLL2):c.112G>C (p.Glu38Gln)	TLL2 (E38Q)	Single nucleotide variant (missense variant)	Proximal amyotrophy +6 more	GUncertain significance
Select item 422408	NM_001003800.2(BICD2):c.1636_1638del (p.Asn546del)	BICD2 (N546del)	Deletion (inframe_deletion)	Macrocephaly +15 more	GPathogenic/Likely pathogenic
Select item 288385	NM_004369.4(COL6A3):c.8359G>A (p.Ala2787Thr)	COL6A3 (A2787T +2 more)	Single nucleotide variant (missense variant)	not provided +8 more	GConflicting classifications of pathogenicity
Select item 242886	NM_001001344.3(ATP2B3):c.3594G>T (p.Lys1198Asn)	ATP2B3 (K1198N)	Single nucleotide variant (missense variant +1 more)	X-linked progressive cerebellar ataxia	GLikely pathogenic
Select item 2298	NM_005609.4(PYGM):c.148C>T (p.Arg50Ter)	PYGM (R50*)	Single nucleotide variant (nonsense)	Inborn genetic diseases +3 more	GPathogenic