"Eurofins Ntd Llc (ga)"[submitter] AND "PTCHD1"[gene] - ClinVar - NCBI

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Items: 13

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 96547	NM_173495.3(PTCHD1):c.93G>A (p.Ala31=)	PTCHD1	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign
Select item 195430	NM_173495.3(PTCHD1):c.656A>G (p.Asn219Ser)	PTCHD1 (N219S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 195428	NM_173495.3(PTCHD1):c.657C>T (p.Asn219=)	PTCHD1	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign/Likely benign
Select item 195431	NM_173495.3(PTCHD1):c.798C>T (p.Arg266=)	PTCHD1	Single nucleotide variant (synonymous variant)	not specified +1 more	GUncertain significance
Select item 195429	NM_173495.3(PTCHD1):c.822C>T (p.Thr274=)	PTCHD1	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 96546	NM_173495.3(PTCHD1):c.858T>C (p.Cys286=)	PTCHD1	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign
Select item 167549	NM_173495.3(PTCHD1):c.1003G>A (p.Val335Ile)	PTCHD1 (V335I)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 596523	NM_173495.3(PTCHD1):c.1031C>T (p.Thr344Ile)	PTCHD1 (T344I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 196593	NM_173495.3(PTCHD1):c.1110C>G (p.Asp370Glu)	PTCHD1 (D370E)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 196590	NM_173495.3(PTCHD1):c.1311T>C (p.His437=)	PTCHD1	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 196592	NM_173495.3(PTCHD1):c.1494C>T (p.Thr498=)	PTCHD1	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +2 more	GBenign/Likely benign
Select item 196594	NM_173495.3(PTCHD1):c.1665G>A (p.Val555=)	PTCHD1	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign/Likely benign
Select item 196591	NM_173495.3(PTCHD1):c.2041G>A (p.Val681Ile)	PTCHD1 (V681I)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity