ClinVar for Gene (Select 222584) - ClinVar

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Links from Gene

Items: 79

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3277508	NM_001010872.3(FAM83B):c.2703G>C (p.Glu901Asp)	FAM83B (E901D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3277507	NM_001010872.3(FAM83B):c.337C>T (p.Pro113Ser)	FAM83B (P113S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3277506	NM_001010872.3(FAM83B):c.1625C>T (p.Ser542Phe)	FAM83B (S542F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3277505	NM_001010872.3(FAM83B):c.1915T>C (p.Tyr639His)	FAM83B (Y639H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3277504	NM_001010872.3(FAM83B):c.989A>G (p.His330Arg)	FAM83B (H330R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3277503	NM_001010872.3(FAM83B):c.2257A>G (p.Lys753Glu)	FAM83B (K753E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3277501	NM_001010872.3(FAM83B):c.1927G>C (p.Gly643Arg)	FAM83B (G643R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3277500	NM_001010872.3(FAM83B):c.1916A>G (p.Tyr639Cys)	FAM83B (Y639C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3277499	NM_001010872.3(FAM83B):c.1268T>A (p.Leu423His)	FAM83B (L423H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3092560	NM_001010872.3(FAM83B):c.858T>G (p.Phe286Leu)	FAM83B (F286L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3092559	NM_001010872.3(FAM83B):c.544G>A (p.Glu182Lys)	FAM83B (E182K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3092558	NM_001010872.3(FAM83B):c.349G>A (p.Gly117Arg)	FAM83B (G117R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3092557	NM_001010872.3(FAM83B):c.2924C>A (p.Ser975Tyr)	FAM83B (S975Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3092556	NM_001010872.3(FAM83B):c.2902A>G (p.Met968Val)	FAM83B (M968V)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3092554	NM_001010872.3(FAM83B):c.2813A>T (p.Glu938Val)	FAM83B (E938V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3092553	NM_001010872.3(FAM83B):c.2381C>A (p.Ala794Glu)	FAM83B (A794E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3092552	NM_001010872.3(FAM83B):c.2380G>A (p.Ala794Thr)	FAM83B (A794T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3092551	NM_001010872.3(FAM83B):c.226G>A (p.Ala76Thr)	FAM83B (A76T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3092550	NM_001010872.3(FAM83B):c.2070G>T (p.Arg690Ser)	FAM83B (R690S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3092549	NM_001010872.3(FAM83B):c.2048A>T (p.Tyr683Phe)	FAM83B (Y683F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3092548	NM_001010872.3(FAM83B):c.1346C>T (p.Ala449Val)	FAM83B (A449V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3092547	NM_001010872.3(FAM83B):c.1288C>T (p.Arg430Trp)	FAM83B (R430W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3092545	NM_001010872.3(FAM83B):c.1028A>G (p.Tyr343Cys)	FAM83B (Y343C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2921047	NM_001010872.3(FAM83B):c.445-9A>G	FAM83B	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2685203	GRCh37/hg19 6p12.3-12.1(chr6:50181657-55538355)x1	CILK1, EFHC1 +30 more	Copy number loss	not provided	GPathogenic
Select item 2656650	NM_001010872.3(FAM83B):c.1998G>A (p.Pro666=)	FAM83B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2615857	NM_001010872.3(FAM83B):c.950C>A (p.Ser317Tyr)	FAM83B (S317Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2607909	NM_001010872.3(FAM83B):c.353G>A (p.Gly118Asp)	FAM83B (G118D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2592048	NM_001010872.3(FAM83B):c.1439G>T (p.Arg480Leu)	FAM83B (R480L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2591709	NM_001010872.3(FAM83B):c.2897C>T (p.Ala966Val)	FAM83B (A966V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2560157	NM_001010872.3(FAM83B):c.602G>A (p.Arg201His)	FAM83B (R201H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2549979	NM_001010872.3(FAM83B):c.401C>T (p.Thr134Met)	FAM83B (T134M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2549073	NM_001010872.3(FAM83B):c.2867C>T (p.Thr956Ile)	FAM83B (T956I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2546072	NM_001010872.3(FAM83B):c.2237T>G (p.Val746Gly)	FAM83B (V746G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2539504	NM_001010872.3(FAM83B):c.2852G>A (p.Ser951Asn)	FAM83B (S951N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2539365	NM_001010872.3(FAM83B):c.2929C>T (p.Pro977Ser)	FAM83B (P977S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2537816	NM_001010872.3(FAM83B):c.140T>C (p.Leu47Pro)	FAM83B (L47P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2521997	NM_001010872.3(FAM83B):c.1939C>A (p.Gln647Lys)	FAM83B (Q647K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2495887	NM_001010872.3(FAM83B):c.1366C>G (p.Leu456Val)	FAM83B (L456V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2495049	NM_001010872.3(FAM83B):c.1553A>T (p.Asp518Val)	FAM83B (D518V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2477574	NM_001010872.3(FAM83B):c.222C>A (p.Ser74Arg)	FAM83B (S74R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2465920	NM_001010872.3(FAM83B):c.1267C>T (p.Leu423Phe)	FAM83B (L423F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2463063	NM_001010872.3(FAM83B):c.2494C>T (p.His832Tyr)	FAM83B (H832Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2403616	NM_001010872.3(FAM83B):c.601C>T (p.Arg201Cys)	FAM83B (R201C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2387208	NM_001010872.3(FAM83B):c.1941G>T (p.Gln647His)	FAM83B (Q647H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2357078	NM_001010872.3(FAM83B):c.2960G>A (p.Arg987His)	FAM83B (R987H)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2353622	NM_001010872.3(FAM83B):c.2185T>A (p.Ser729Thr)	FAM83B (S729T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2352238	NM_001010872.3(FAM83B):c.2152G>C (p.Glu718Gln)	FAM83B (E718Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2349390	NM_001010872.3(FAM83B):c.1367T>G (p.Leu456Arg)	FAM83B (L456R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2338194	NM_001010872.3(FAM83B):c.2690G>A (p.Arg897Gln)	FAM83B (R897Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2329687	NM_001010872.3(FAM83B):c.884A>C (p.Lys295Thr)	FAM83B (K295T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2308959	NM_001010872.3(FAM83B):c.2756C>T (p.Thr919Met)	FAM83B (T919M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2303569	NM_001010872.3(FAM83B):c.590G>T (p.Cys197Phe)	FAM83B (C197F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2298114	NM_001010872.3(FAM83B):c.2692G>C (p.Asp898His)	FAM83B (D898H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2294002	NM_001010872.3(FAM83B):c.1091C>T (p.Pro364Leu)	FAM83B (P364L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2292063	NM_001010872.3(FAM83B):c.2932T>A (p.Leu978Met)	FAM83B (L978M)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2291169	NM_001010872.3(FAM83B):c.426G>T (p.Met142Ile)	FAM83B (M142I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2246745	NM_001010872.3(FAM83B):c.115G>C (p.Gly39Arg)	FAM83B (G39R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2242798	NM_001010872.3(FAM83B):c.2795G>A (p.Arg932His)	FAM83B (R932H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2231204	NM_001010872.3(FAM83B):c.1424G>A (p.Arg475His)	FAM83B (R475H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2226714	NM_001010872.3(FAM83B):c.1118G>A (p.Arg373His)	FAM83B (R373H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2226369	NM_001010872.3(FAM83B):c.1069G>A (p.Gly357Arg)	FAM83B (G357R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2225857	NM_001010872.3(FAM83B):c.1277C>T (p.Ala426Val)	FAM83B (A426V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2219707	NM_001010872.3(FAM83B):c.1997C>T (p.Pro666Leu)	FAM83B (P666L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1809510	GRCh38/hg38 6p12.1-11.2(chr6:55755662-55874865)x2	LINC01564, LINC03001 +88 more	Copy number loss	Orofacial cleft	GUncertain significance
Select item 1676306	GRCh37/hg19 6p21.1-q12(chr6:43636308-64947206)x3	PAQR8, PGK2 +92 more	Copy number gain	not provided	GLikely pathogenic
Select item 983177	GRCh37/hg19 6p12.3-12.1(chr6:48626041-55575545)x1	TFAP2D, TINAG +43 more	Copy number loss	See cases	GLikely pathogenic
Select item 783465	NM_001010872.3(FAM83B):c.2856C>T (p.Asn952=)	FAM83B	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 768100	NM_001010872.3(FAM83B):c.339C>T (p.Pro113=)	FAM83B	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 711976	NM_001010872.3(FAM83B):c.498C>T (p.Ile166=)	FAM83B	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 709052	NM_001010872.3(FAM83B):c.2197A>G (p.Thr733Ala)	FAM83B (T733A)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 625706	GRCh37/hg19 6p22.1-q14.1(chr6:29455465-81447367)	ERVH-3, ETV7 +427 more	Copy number gain	not provided	GPathogenic
Select item 443497	GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)	AARS2, ABCC10 +1028 more	Copy number gain	See cases	GPathogenic
Select item 443496	GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)x3	RING1, RIOK1 +1028 more	Copy number gain	See cases	GPathogenic
Select item 442770	GRCh37/hg19 6p12.1(chr6:54730810-56217129)x1	BMP5, COL21A1 +4 more	Copy number loss	See cases	GLikely benign
Select item 395618	GRCh37/hg19 6p12.1(chr6:53661282-55147137)x3	LRRC1, MLIP +4 more	Copy number gain	See cases	GUncertain significance
Select item 148002	GRCh38/hg38 6p12.1-q12(chr6:53931543-68149750)x3	BAG2, BEND6 +147 more	Copy number gain	See cases	GPathogenic
Select item 145584	GRCh38/hg38 6p12.3-11.2(chr6:50971182-57432788)x1	BAG2, BEND6 +171 more	Copy number loss	See cases	GPathogenic
Select item 58429	GRCh38/hg38 6p12.1(chr6:54263893-56826637)x1	BMP5, COL21A1 +18 more	Copy number loss	See cases	GPathogenic

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Links from Gene

Items: 79