C1858493[trait identifier] AND "Genetic Services Laboratory, Universit - ClinVar

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Items: 24

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 46314	NM_032119.4(ADGRV1):c.327C>T (p.Asp109=)	ADGRV1	Single nucleotide variant (synonymous variant +1 more)	Usher syndrome type 2C +3 more	GBenign/Likely benign
Select item 46341	NM_032119.4(ADGRV1):c.581C>A (p.Pro194His)	ADGRV1 (P194H)	Single nucleotide variant (missense variant +1 more)	not specified +3 more	GBenign/Likely benign
Select item 46286	NM_032119.4(ADGRV1):c.1652T>C (p.Val551Ala)	ADGRV1 (V551A)	Single nucleotide variant (missense variant +1 more)	Usher syndrome type 2C +3 more	GBenign
Select item 158649	NM_032119.4(ADGRV1):c.1855T>G (p.Leu619Val)	ADGRV1 (L619V)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 158650	NM_032119.4(ADGRV1):c.2456G>A (p.Ser819Asn)	ADGRV1 (S819N)	Single nucleotide variant (missense variant +1 more)	ADGRV1-related disorder +3 more	GConflicting classifications of pathogenicity
Select item 46311	NM_032119.4(ADGRV1):c.3151G>T (p.Asp1051Tyr)	ADGRV1 (D1051Y)	Single nucleotide variant (missense variant +1 more)	not specified +4 more	GConflicting classifications of pathogenicity
Select item 46312	NM_032119.4(ADGRV1):c.3191A>C (p.Glu1064Ala)	ADGRV1 (E1064A)	Single nucleotide variant (missense variant +1 more)	not specified +5 more	GConflicting classifications of pathogenicity
Select item 46329	NM_032119.4(ADGRV1):c.4506C>T (p.Pro1502=)	ADGRV1	Single nucleotide variant (synonymous variant +1 more)	Usher syndrome type 2C +3 more	GBenign
Select item 46337	NM_032119.4(ADGRV1):c.5525-7C>T	ADGRV1	Single nucleotide variant (intron variant)	not specified +4 more	GBenign/Likely benign
Select item 46345	NM_032119.4(ADGRV1):c.5960C>T (p.Pro1987Leu)	ADGRV1 (P1987L)	Single nucleotide variant (missense variant +1 more)	Usher syndrome type 2C +3 more	GBenign
Select item 46348	NM_032119.4(ADGRV1):c.6133G>A (p.Gly2045Arg)	ADGRV1 (G2045R)	Single nucleotide variant (missense variant +1 more)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 46356	NM_032119.4(ADGRV1):c.6695A>G (p.Tyr2232Cys)	ADGRV1 (Y2232C)	Single nucleotide variant (missense variant +1 more)	Usher syndrome type 2C +3 more	GBenign
Select item 46358	NM_032119.4(ADGRV1):c.6952-10G>A	ADGRV1	Single nucleotide variant (intron variant)	Usher syndrome type 2C +3 more	GBenign
Select item 46360	NM_032119.4(ADGRV1):c.7034A>G (p.Asn2345Ser)	ADGRV1 (N2345S)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GBenign
Select item 46365	NM_032119.4(ADGRV1):c.7206G>A (p.Glu2402=)	ADGRV1	Single nucleotide variant (synonymous variant +1 more)	not specified +3 more	GBenign
Select item 46368	NM_032119.4(ADGRV1):c.7293C>T (p.Ala2431=)	ADGRV1	Single nucleotide variant (synonymous variant +1 more)	not provided +3 more	GBenign/Likely benign
Select item 46400	NM_032119.4(ADGRV1):c.8876G>A (p.Arg2959Gln)	ADGRV1 (R2959Q)	Single nucleotide variant (missense variant +1 more)	not specified +3 more	GBenign/Likely benign
Select item 46409	NM_032119.4(ADGRV1):c.9927T>G (p.Pro3309=)	ADGRV1	Single nucleotide variant (synonymous variant +1 more)	not specified +3 more	GBenign
Select item 158644	NM_032119.4(ADGRV1):c.11338C>T (p.Arg3780Cys)	ADGRV1 (R3780C)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 158646	NM_032119.4(ADGRV1):c.12032G>T (p.Gly4011Val)	ADGRV1 (G4011V)	Single nucleotide variant (missense variant +1 more)	Febrile seizures, familial, 4 +2 more	GUncertain significance
Select item 46265	NM_032119.4(ADGRV1):c.13037C>T (p.Pro4346Leu)	ADGRV1 (P4346L)	Single nucleotide variant (missense variant +1 more)	Usher syndrome type 2C +3 more	GBenign
Select item 46268	NM_032119.4(ADGRV1):c.13599A>G (p.Thr4533=)	ADGRV1	Single nucleotide variant (synonymous variant +1 more)	Usher syndrome type 2C +3 more	GBenign
Select item 100602	NM_032119.4(ADGRV1):c.18273A>G (p.Ala6091=)	ADGRV1	Single nucleotide variant (synonymous variant +1 more)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 46300	NM_032119.4(ADGRV1):c.18741G>A (p.Gly6247=)	ADGRV1	Single nucleotide variant (synonymous variant +1 more)	Usher syndrome type 2C +3 more	GBenign

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Items: 24