C3806737[trait identifier] AND "Genome-Nilou Lab"[submitter] - ClinVar

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Items: 46

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 258280	NM_033641.4(COL4A6):c.4812+8C>T	COL4A6	Single nucleotide variant (intron variant)	Hearing loss, X-linked 6 +2 more	GBenign
Select item 513663	NM_033641.4(COL4A6):c.4609C>T (p.Arg1537Cys)	COL4A6 (R1537C +4 more)	Single nucleotide variant (missense variant)	Hearing loss, X-linked 6 +1 more	GBenign
Select item 1265907	NM_033641.4(COL4A6):c.4404G>A (p.Thr1468=)	COL4A6	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 767178	NM_033641.4(COL4A6):c.4299T>A (p.Gly1433=)	COL4A6	Single nucleotide variant (synonymous variant)	Hearing loss, X-linked 6 +1 more	GBenign
Select item 258278	NM_033641.4(COL4A6):c.4082T>C (p.Leu1361Pro)	COL4A6 (L1362P +4 more)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign
Select item 1318400	NM_033641.4(COL4A6):c.4070-17C>T	COL4A6	Single nucleotide variant (intron variant)	Hearing loss, X-linked 6 +1 more	GBenign/Likely benign
Select item 258277	NM_033641.4(COL4A6):c.3855G>A (p.Ser1285=)	COL4A6	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign
Select item 1240869	NM_033641.4(COL4A6):c.3809-14G>A	COL4A6	Single nucleotide variant (intron variant)	Hearing loss, X-linked 6 +1 more	GBenign
Select item 258276	NM_033641.4(COL4A6):c.3760G>T (p.Ala1254Ser)	COL4A6 (A1255S +3 more)	Single nucleotide variant (missense variant)	Hearing loss, X-linked 6 +2 more	GBenign/Likely benign
Select item 594995	NM_033641.4(COL4A6):c.3537G>A (p.Pro1179=)	COL4A6	Single nucleotide variant (synonymous variant +1 more)	Hearing loss, X-linked 6 +2 more	GBenign/Likely benign
Select item 258275	NM_033641.4(COL4A6):c.3481A>G (p.Ile1161Val)	COL4A6 (I1162V +2 more)	Single nucleotide variant (missense variant)	Hearing loss, X-linked 6 +2 more	GBenign
Select item 675897	NM_033641.4(COL4A6):c.3474C>T (p.Pro1158=)	COL4A6	Single nucleotide variant (synonymous variant)	Hearing loss, X-linked 6 +1 more	GBenign
Select item 258274	NM_033641.4(COL4A6):c.3402C>T (p.Ala1134=)	COL4A6	Single nucleotide variant (synonymous variant)	Hearing loss, X-linked 6 +2 more	GBenign
Select item 258273	NM_033641.4(COL4A6):c.3373C>T (p.Pro1125Ser)	COL4A6 (P1126S +2 more)	Single nucleotide variant (missense variant)	not specified +2 more	GBenign
Select item 715056	NM_033641.4(COL4A6):c.3192A>G (p.Pro1064=)	COL4A6	Single nucleotide variant (synonymous variant)	Hearing loss, X-linked 6 +1 more	GBenign
Select item 258272	NM_033641.4(COL4A6):c.3139-4G>A	COL4A6	Single nucleotide variant (intron variant)	Hearing loss, X-linked 6 +2 more	GBenign
Select item 1328649	NM_033641.4(COL4A6):c.3138+17C>T	COL4A6	Single nucleotide variant (intron variant)	Hearing loss, X-linked 6 +1 more	GBenign/Likely benign
Select item 258271	NM_033641.4(COL4A6):c.3078C>T (p.Gly1026=)	COL4A6	Single nucleotide variant (synonymous variant)	Hearing loss, X-linked 6 +2 more	GBenign
Select item 1255397	NM_033641.4(COL4A6):c.2956+39G>A	COL4A6	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 707465	NM_033641.4(COL4A6):c.2888A>T (p.Asn963Ile)	COL4A6 (N964I +2 more)	Single nucleotide variant (missense variant)	Hearing loss, X-linked 6 +1 more	GBenign
Select item 258270	NM_033641.4(COL4A6):c.2808T>C (p.Arg936=)	COL4A6	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign
Select item 1237218	NM_033641.4(COL4A6):c.2409G>A (p.Gly803=)	COL4A6	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 766981	NM_033641.4(COL4A6):c.2400C>A (p.Gly800=)	COL4A6	Single nucleotide variant (synonymous variant)	Hearing loss, X-linked 6 +1 more	GBenign
Select item 258269	NM_033641.4(COL4A6):c.2132-6G>T	COL4A6	Single nucleotide variant (intron variant)	Hearing loss, X-linked 6 +2 more	GBenign/Likely benign
Select item 258268	NM_033641.4(COL4A6):c.2132-6G>A	COL4A6	Single nucleotide variant (intron variant)	not provided +2 more	GBenign/Likely benign
Select item 514981	NM_033641.4(COL4A6):c.2039G>A (p.Arg680Gln)	COL4A6 (R680Q +2 more)	Single nucleotide variant (missense variant)	Hearing loss, X-linked 6 +1 more	GBenign/Likely benign
Select item 1278580	NM_033641.4(COL4A6):c.1922C>T (p.Pro641Leu)	COL4A6 (P641L +1 more)	Single nucleotide variant (missense variant)	Hearing loss, X-linked 6 +1 more	GBenign
Select item 772297	NM_033641.4(COL4A6):c.1886G>A (p.Arg629His)	COL4A6 (R629H +1 more)	Single nucleotide variant (missense variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 515796	NM_033641.4(COL4A6):c.1676G>A (p.Arg559Gln)	COL4A6 (R559Q +1 more)	Single nucleotide variant (missense variant)	Hearing loss, X-linked 6 +1 more	GBenign/Likely benign
Select item 1316585	NM_033641.4(COL4A6):c.1533A>G (p.Lys511=)	COL4A6	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 682306	NM_033641.4(COL4A6):c.1431C>T (p.Asp477=)	COL4A6	Single nucleotide variant (synonymous variant)	Hearing loss, X-linked 6 +1 more	GBenign
Select item 502185	NM_033641.4(COL4A6):c.1379G>A (p.Arg460Gln)	COL4A6 (R461Q +1 more)	Single nucleotide variant (missense variant)	Hearing loss, X-linked 6 +2 more	GBenign
Select item 500838	NM_033641.4(COL4A6):c.1379G>T (p.Arg460Leu)	COL4A6 (R461L +1 more)	Single nucleotide variant (missense variant)	Hearing loss, X-linked 6 +2 more	GBenign/Likely benign
Select item 258267	NM_033641.4(COL4A6):c.1360T>C (p.Ser454Pro)	COL4A6 (S455P +1 more)	Single nucleotide variant (missense variant)	Hearing loss, X-linked 6 +2 more	GBenign
Select item 678419	NM_033641.4(COL4A6):c.1180+4dup	COL4A6	Duplication (intron variant)	Hearing loss, X-linked 6 +1 more	GBenign
Select item 515260	NM_033641.4(COL4A6):c.1125A>G (p.Glu375=)	COL4A6	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 1255399	NM_033641.4(COL4A6):c.949-31C>G	COL4A6	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1235575	NM_033641.4(COL4A6):c.835-6A>G	COL4A6	Single nucleotide variant (intron variant)	Hearing loss, X-linked 6 +1 more	GBenign
Select item 1255400	NM_033641.4(COL4A6):c.687+30C>A	COL4A6	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 668190	NM_033641.4(COL4A6):c.672A>G (p.Gly224=)	COL4A6	Single nucleotide variant (synonymous variant)	Hearing loss, X-linked 6 +1 more	GBenign
Select item 592972	NM_033641.4(COL4A6):c.528T>G (p.Pro176=)	COL4A6	Single nucleotide variant (synonymous variant)	Hearing loss, X-linked 6 +2 more	GBenign
Select item 682305	NM_033641.4(COL4A6):c.432C>T (p.Leu144=)	COL4A6	Single nucleotide variant (synonymous variant)	Hearing loss, X-linked 6 +1 more	GBenign
Select item 513399	NM_033641.4(COL4A6):c.323C>T (p.Pro108Leu)	COL4A6 (P108L +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign
Select item 514998	NM_033641.4(COL4A6):c.303T>C (p.Phe101=)	COL4A6	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign
Select item 515259	NM_033641.4(COL4A6):c.286A>T (p.Met96Leu)	COL4A6 (M96L +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 1259208	NM_033641.4(COL4A6):c.114C>T (p.Ser38=)	COL4A6	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign

ClinVar

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Items: 46