ClinVar for Gene (Select 923) - ClinVar

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Links from Gene

Items: 67

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3264862	NM_006725.5(CD6):c.1532C>G (p.Thr511Arg)	CD6 (T470R +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3264861	NM_006725.5(CD6):c.703G>A (p.Ala235Thr)	CD6 (A235T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3264860	NM_006725.5(CD6):c.388A>T (p.Ser130Cys)	CD6 (S130C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3264859	NM_006725.5(CD6):c.797G>T (p.Arg266Leu)	CD6 (R266L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3264858	NM_006725.5(CD6):c.1673C>T (p.Pro558Leu)	CD6 (P517L +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3264857	NM_006725.5(CD6):c.1138A>G (p.Thr380Ala)	CD6 (T380A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3250742	NM_006725.5(CD6):c.1818C>G (p.Gly606=)	CD6	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3140640	NM_006725.5(CD6):c.496G>C (p.Gly166Arg)	CD6 (G166R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3140639	NM_006725.5(CD6):c.482T>G (p.Leu161Arg)	CD6 (L161R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3140638	NM_006725.5(CD6):c.361C>G (p.Leu121Val)	CD6 (L121V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3140637	NM_006725.5(CD6):c.1520G>A (p.Arg507Gln)	CD6 (R466Q +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3140636	NM_006725.5(CD6):c.1519C>T (p.Arg507Trp)	CD6 (R475W +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3140635	NM_006725.5(CD6):c.1337C>T (p.Pro446Leu)	CD6 (P446L)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3140633	NM_006725.5(CD6):c.1287A>T (p.Lys429Asn)	CD6 (K429N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3140632	NM_006725.5(CD6):c.1120G>A (p.Val374Ile)	CD6 (V374I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3140631	NM_006725.5(CD6):c.104A>T (p.Glu35Val)	CD6 (E35V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3063215	GRCh37/hg19 11q12.1-13.3(chr11:56895955-69295402)x3	ACTN3, ACY3 +343 more	Copy number gain	not specified	GLikely pathogenic
Select item 3063189	GRCh37/hg19 11p11.12-q13.1(chr11:50398499-63924462)x3	AHNAK, APLNR +225 more	Copy number gain	not specified	GLikely pathogenic
Select item 3060458	NM_006725.5(CD6):c.673C>T (p.Arg225Trp)	CD6 (R225W)	Single nucleotide variant (missense variant +1 more)	CD6-related disorder	GBenign
Select item 3060441	NM_006725.5(CD6):c.811G>A (p.Ala271Thr)	CD6 (A271T)	Single nucleotide variant (missense variant +1 more)	CD6-related disorder	GBenign
Select item 3059695	NM_006725.5(CD6):c.771G>C (p.Ala257=)	CD6	Single nucleotide variant (synonymous variant +1 more)	CD6-related disorder	GBenign
Select item 3059657	NM_006725.5(CD6):c.567T>C (p.Thr189=)	CD6	Single nucleotide variant (synonymous variant +1 more)	CD6-related disorder	GBenign
Select item 3059536	NM_006725.5(CD6):c.770C>T (p.Ala257Val)	CD6 (A257V)	Single nucleotide variant (missense variant +1 more)	CD6-related disorder	GBenign
Select item 3059454	NM_006725.5(CD6):c.1704A>G (p.Ser568=)	CD6	Single nucleotide variant (synonymous variant +1 more)	CD6-related disorder	GBenign
Select item 3059147	NM_006725.5(CD6):c.1815C>T (p.Ala605=)	CD6	Single nucleotide variant (synonymous variant +1 more)	CD6-related disorder	GBenign
Select item 3057359	NM_006725.5(CD6):c.1299C>T (p.Pro433=)	CD6	Single nucleotide variant (synonymous variant +2 more)	CD6-related disorder	GLikely benign
Select item 3056065	NM_006725.5(CD6):c.650C>T (p.Thr217Met)	CD6 (T217M)	Single nucleotide variant (missense variant +1 more)	CD6-related disorder	GBenign
Select item 3055886	NM_006725.5(CD6):c.1816G>A (p.Gly606Ser)	CD6 (G565S +2 more)	Single nucleotide variant (missense variant +1 more)	CD6-related disorder	GBenign
Select item 3042003	NM_006725.5(CD6):c.1362G>A (p.Pro454=)	CD6	Single nucleotide variant (synonymous variant +2 more)	CD6-related disorder	GLikely benign
Select item 3039701	NM_006725.5(CD6):c.1971C>T (p.Thr657=)	CD6	Single nucleotide variant (synonymous variant +1 more)	CD6-related disorder	GLikely benign
Select item 3038860	NM_006725.5(CD6):c.1875C>G (p.Ser625=)	CD6	Single nucleotide variant (synonymous variant +1 more)	CD6-related disorder	GBenign
Select item 3038452	NM_006725.5(CD6):c.1834T>C (p.Ser612Pro)	CD6 (S571P +2 more)	Single nucleotide variant (missense variant +1 more)	CD6-related disorder	GLikely benign
Select item 3037569	NM_006725.5(CD6):c.49+8C>T	CD6	Single nucleotide variant (intron variant)	CD6-related disorder	GBenign
Select item 2684646	GRCh37/hg19 11q12.2-13.5(chr11:59923608-76272324)x3	FOLR2, RAB3IL1 +362 more	Copy number gain	not provided	GPathogenic
Select item 2610059	NM_006725.5(CD6):c.314C>G (p.Pro105Arg)	CD6 (P105R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2604959	NM_006725.5(CD6):c.983A>T (p.Tyr328Phe)	CD6 (Y328F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2600304	NM_006725.5(CD6):c.1841G>A (p.Gly614Glu)	CD6 (G614E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2558181	NM_006725.5(CD6):c.1706G>A (p.Gly569Glu)	CD6 (G528E +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2555477	NM_006725.5(CD6):c.634C>T (p.Pro212Ser)	CD6 (P212S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2518049	NM_006725.5(CD6):c.229C>A (p.Arg77Ser)	CD6 (R77S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2490654	NM_006725.5(CD6):c.1822C>A (p.Gln608Lys)	CD6 (Q567K +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2487121	NM_006725.5(CD6):c.1426G>A (p.Glu476Lys)	CD6 (E476K +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2466563	NM_006725.5(CD6):c.1219G>C (p.Val407Leu)	CD6 (V407L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2425028	NC_000011.9:g.(?_58916346)_(64972349_?)dup	AHNAK, ARL2 +182 more	Duplication	Leukocyte adhesion deficiency 3	GUncertain significance
Select item 2400890	NM_006725.5(CD6):c.65C>A (p.Ala22Asp)	CD6 (A22D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2399955	NM_006725.5(CD6):c.1200G>A (p.Met400Ile)	CD6 (M400I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2381315	NM_006725.5(CD6):c.316C>G (p.Pro106Ala)	CD6 (P106A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2365055	NM_006725.5(CD6):c.947A>G (p.Lys316Arg)	CD6 (K316R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2354115	NM_006725.5(CD6):c.1939C>G (p.Pro647Ala)	CD6 (P647A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2352255	NM_006725.5(CD6):c.1691C>T (p.Ser564Leu)	CD6 (S523L +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2337487	NM_006725.5(CD6):c.786C>A (p.His262Gln)	CD6 (H262Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2324815	NM_006725.5(CD6):c.932C>A (p.Ala311Glu)	CD6 (A311E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2303593	NM_006725.5(CD6):c.943C>A (p.Pro315Thr)	CD6 (P315T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2302370	NM_006725.5(CD6):c.977T>C (p.Met326Thr)	CD6 (M326T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2299172	NM_006725.5(CD6):c.1226G>T (p.Gly409Val)	CD6 (G409V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2295037	NM_006725.5(CD6):c.1412A>G (p.Gln471Arg)	CD6 (Q439R +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2262096	NM_006725.5(CD6):c.1843C>A (p.Pro615Thr)	CD6 (P615T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2257514	NM_006725.5(CD6):c.1673C>A (p.Pro558Gln)	CD6 (P517Q +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1707422	GRCh37/hg19 11p11.2-q12.2(chr11:51581311-54891247)x3	ACP2, ACCS +216 more	Copy number gain	See cases	GPathogenic
Select item 1704646	GRCh37/hg19 11p13-q25(chr11:32799481-134938470)x3	MAML2, MAP3K11 +955 more	Copy number gain	MISSED ABORTION	GPathogenic
Select item 997825	Single allele	MMP13, MMP20 +904 more	Deletion	Intellectual disability	GPathogenic
Select item 815435	GRCh37/hg19 11q12.2-12.3(chr11:60385382-62456278)x3	CD5, CD6 +58 more	Copy number gain	not provided	GUncertain significance
Select item 724763	NM_006725.5(CD6):c.1583-8T>C	CD6	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 687991	GRCh37/hg19 11q12.2(chr11:60499486-61529578)x3	CCDC86, CD5 +27 more	Copy number gain	not provided	GUncertain significance
Select item 563873	GRCh37/hg19 11q12.1-12.3(chr11:58935215-62177656)x3	ASRGL1, BEST1 +72 more	Copy number gain	not provided	GLikely pathogenic
Select item 441904	GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)	AAMDC, AASDHPPT +1289 more	Copy number gain	See cases	GPathogenic
Select item 441903	GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)x3	SLC37A4, SNORD26 +1289 more	Copy number gain	See cases	GPathogenic

ClinVar

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Links from Gene

Items: 67