"Baylor Genetics"[submitter] AND "CHD1"[gene] - ClinVar - NCBI

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Items: 8

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1027857	NM_001270.4(CHD1):c.4792T>C (p.Tyr1598His)	CHD1 (Y1598H +1 more)	Single nucleotide variant (missense variant +1 more)	Pilarowski-Bjornsson syndrome	GUncertain significance
Select item 1027856	NM_001270.4(CHD1):c.4551G>T (p.Leu1517Phe)	CHD1 (L1517F +1 more)	Single nucleotide variant (missense variant +1 more)	Pilarowski-Bjornsson syndrome	GUncertain significance
Select item 1031944	NM_001270.4(CHD1):c.4427+17T>G	CHD1	Single nucleotide variant (intron variant)	Pilarowski-Bjornsson syndrome	GUncertain significance
Select item 1027855	NM_001270.4(CHD1):c.3335G>T (p.Arg1112Leu)	CHD1 (R1112L)	Single nucleotide variant (missense variant +1 more)	Pilarowski-Bjornsson syndrome	GUncertain significance
Select item 2582374	NM_001270.4(CHD1):c.2569-11A>G	CHD1	Single nucleotide variant (intron variant)	Pilarowski-Bjornsson syndrome	GLikely pathogenic
Select item 1031943	NM_001270.4(CHD1):c.271C>T (p.Pro91Ser)	CHD1 (P91S)	Single nucleotide variant (missense variant +1 more)	Pilarowski-Bjornsson syndrome	GUncertain significance
Select item 1033800	NM_001270.4(CHD1):c.242T>C (p.Val81Ala)	CHD1, LOC126807465 (V81A)	Single nucleotide variant (missense variant +1 more)	Pilarowski-Bjornsson syndrome	GUncertain significance
Select item 1027854	NM_001270.4(CHD1):c.205T>C (p.Ser69Pro)	CHD1, LOC126807465 (S69P)	Single nucleotide variant (missense variant +1 more)	Pilarowski-Bjornsson syndrome	GUncertain significance