ClinVar for OMIM (Select 185800) - ClinVar - NCBI

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Items: 13

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2573208	NM_005450.6(NOG):c.101G>C (p.Arg34Pro)	NOG (R34P)	Single nucleotide variant (missense variant)	Proximal symphalangism 1A	GUncertain significance
Select item 1172598	NM_005450.6(NOG):c.554C>G (p.Ser185Cys)	NOG (S185C)	Single nucleotide variant (missense variant)	Proximal symphalangism 1A	GLikely pathogenic
Select item 599097	NM_005450.6(NOG):c.599T>C (p.Leu200Pro)	NOG (L200P)	Single nucleotide variant (missense variant)	Proximal symphalangism 1A	GLikely pathogenic
Select item 375295	NM_005450.6(NOG):c.611G>A (p.Arg204Gln)	NOG (R204Q)	Single nucleotide variant (missense variant)	Tarsal-carpal coalition syndrome +1 more	GConflicting classifications of pathogenicity
Select item 6703	NM_005450.6(NOG):c.103C>T (p.Pro35Ser)	NOG (P35S)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 6700	NM_005450.6(NOG):c.386T>A (p.Leu129Ter)	NOG (L129*)	Single nucleotide variant (nonsense)	Proximal symphalangism 1A	GPathogenic
Select item 6699	NM_005450.6(NOG):c.551G>A (p.Cys184Tyr)	NOG (C184Y)	Single nucleotide variant (missense variant)	Proximal symphalangism 1A	GPathogenic
Select item 6697	NM_005450.6(NOG):c.104C>G (p.Pro35Arg)	NOG (P35R)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic
Select item 6695	NM_005450.6(NOG):c.565G>T (p.Gly189Cys)	NOG (G189C)	Single nucleotide variant (missense variant)	Proximal symphalangism 1A	GPathogenic
Select item 6694	NM_005450.6(NOG):c.668C>T (p.Pro223Leu)	NOG (P223L)	Single nucleotide variant (missense variant)	Proximal symphalangism 1A	GPathogenic
Select item 6692	NM_005450.6(NOG):c.664T>G (p.Tyr222Asp)	NOG (Y222D)	Single nucleotide variant (missense variant)	Proximal symphalangism 1A	GPathogenic
Select item 6691	NM_005450.6(NOG):c.665A>G (p.Tyr222Cys)	NOG (Y222C)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 6558	NM_001203.3(BMPR1B):c.1457G>A (p.Arg486Gln)	BMPR1B (R486Q +1 more)	Single nucleotide variant (missense variant)	BMPR1B-related disorder	GLikely pathogenic