ClinVar for Gene (Select 27146) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3277297	NM_015688.2(FAM184B):c.2802C>G (p.His934Gln)	FAM184B (H934Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3277296	NM_015688.2(FAM184B):c.2269G>A (p.Glu757Lys)	FAM184B (E757K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3277295	NM_015688.2(FAM184B):c.2156G>A (p.Arg719His)	FAM184B (R719H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3092132	NM_015688.2(FAM184B):c.727G>A (p.Ala243Thr)	FAM184B (A243T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3092131	NM_015688.2(FAM184B):c.3122A>C (p.Glu1041Ala)	FAM184B, MED28 (E1041A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3092129	NM_015688.2(FAM184B):c.2985G>C (p.Arg995Ser)	FAM184B, MED28 (R995S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3092128	NM_015688.2(FAM184B):c.2920G>A (p.Val974Met)	FAM184B, MED28 (V974M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3092127	NM_015688.2(FAM184B):c.2685G>C (p.Glu895Asp)	FAM184B (E895D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3092126	NM_015688.2(FAM184B):c.250A>G (p.Arg84Gly)	FAM184B (R84G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3092124	NM_015688.2(FAM184B):c.2381C>T (p.Pro794Leu)	FAM184B (P794L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3092122	NM_015688.2(FAM184B):c.2032C>A (p.Leu678Ile)	FAM184B (L678I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3092121	NM_015688.2(FAM184B):c.1793G>T (p.Trp598Leu)	FAM184B (W598L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3092120	NM_015688.2(FAM184B):c.1636G>C (p.Glu546Gln)	FAM184B (E546Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3092119	NM_015688.2(FAM184B):c.1582A>T (p.Ile528Phe)	FAM184B (I528F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3092118	NM_015688.2(FAM184B):c.1528C>T (p.Arg510Cys)	FAM184B (R510C)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3092117	NM_015688.2(FAM184B):c.1282C>G (p.Leu428Val)	FAM184B (L428V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3062783	GRCh37/hg19 4p16.3-15.31(chr4:68345-19103550)x1	ABLIM2, ACOX3 +140 more	Copy number loss	not specified	GPathogenic
Select item 3062759	GRCh37/hg19 4p16.3-15.31(chr4:68345-21143236)x1	ABLIM2, ACOX3 +143 more	Copy number loss	not specified	GPathogenic
Select item 3062750	GRCh37/hg19 4p16.3-11(chr4:68345-49089361)x3	ABLIM2, ACOX3 +226 more	Copy number gain	not specified	GPathogenic
Select item 2685107	GRCh37/hg19 4p15.33-15.2(chr4:12238766-23083496)x1	ADGRA3, BOD1L1 +26 more	Copy number loss	not provided	GLikely pathogenic
Select item 2654690	NM_015688.2(FAM184B):c.199C>T (p.Arg67Trp)	FAM184B (R67W)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2654689	NM_015688.2(FAM184B):c.378G>A (p.Arg126=)	FAM184B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2654688	NM_015688.2(FAM184B):c.1073G>C (p.Arg358Pro)	FAM184B (R358P)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2622252	NM_015688.2(FAM184B):c.1634G>T (p.Gly545Val)	FAM184B (G545V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2602225	NM_015688.2(FAM184B):c.2933C>T (p.Pro978Leu)	FAM184B, MED28 (P978L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2600413	NM_015688.2(FAM184B):c.2966G>T (p.Ser989Ile)	FAM184B, MED28 (S989I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2596631	NM_015688.2(FAM184B):c.1978G>A (p.Glu660Lys)	FAM184B (E660K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2588826	NM_015688.2(FAM184B):c.1114C>A (p.Gln372Lys)	FAM184B (Q372K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2583027	GRCh37/hg19 4p15.32-15.31(chr4:17488754-17974508)x3	CLRN2, DCAF16 +6 more	Copy number gain	not provided	GUncertain significance
Select item 2579174	GRCh38/hg38 4p16.3-q12(chr4:85624-57073230)x3	LOC129992561, LOC129992562 +1409 more	Copy number gain	Neurodevelopmental disorder	GPathogenic
Select item 2579173	GRCh38/hg38 4p16.3-13(chr4:2904667-42963232)x3	LOC129992261, LOC129992262 +962 more	Copy number gain	Neurodevelopmental disorder	GPathogenic
Select item 2579172	GRCh38/hg38 4p16.3-11(chr4:1-49062177)x3	LOC123477714, LOC123477715 +1267 more	Copy number gain	Neurodevelopmental disorder	GPathogenic
Select item 2574695	GRCh37/hg19 4p16.3-15.1(chr4:68345-34512694)	RNF212, RNF4 +162 more	Copy number gain	4p16.3 microduplication syndrome	GPathogenic
Select item 2570083	NM_015688.2(FAM184B):c.2603T>C (p.Met868Thr)	FAM184B (M868T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2562373	NM_015688.2(FAM184B):c.1963A>T (p.Met655Leu)	FAM184B (M655L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2562370	NM_015688.2(FAM184B):c.1956C>G (p.Asn652Lys)	FAM184B (N652K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2555951	NM_015688.2(FAM184B):c.440T>C (p.Leu147Pro)	FAM184B (L147P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2555253	NM_015688.2(FAM184B):c.2045A>G (p.Glu682Gly)	FAM184B (E682G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2551786	NM_015688.2(FAM184B):c.2239C>T (p.His747Tyr)	FAM184B (H747Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2536024	NM_015688.2(FAM184B):c.838G>T (p.Gly280Cys)	FAM184B (G280C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2522825	NM_015688.2(FAM184B):c.2549G>A (p.Arg850Gln)	FAM184B (R850Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2508957	NM_015688.2(FAM184B):c.2729T>C (p.Ile910Thr)	FAM184B (I910T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2480626	NM_015688.2(FAM184B):c.401T>C (p.Leu134Pro)	FAM184B (L134P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2472383	NM_015688.2(FAM184B):c.1038G>A (p.Met346Ile)	FAM184B (M346I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2465772	NM_015688.2(FAM184B):c.2918G>A (p.Arg973His)	FAM184B, MED28 (R973H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2465252	NM_015688.2(FAM184B):c.2102G>A (p.Arg701Gln)	FAM184B (R701Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2460979	NM_015688.2(FAM184B):c.2971G>T (p.Asp991Tyr)	FAM184B, MED28 (D991Y)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2445987	GRCh38/hg38 4p15.33-14(chr4:11399082-38137335)	FGFBP1, LOC126806998 +393 more	Copy number loss	4p partial monosomy syndrome	GPathogenic
Select item 2411201	NM_015688.2(FAM184B):c.1012C>T (p.Arg338Cys)	FAM184B (R338C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2408634	NM_015688.2(FAM184B):c.1529G>A (p.Arg510His)	FAM184B (R510H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2405073	NM_015688.2(FAM184B):c.2348A>G (p.Glu783Gly)	FAM184B (E783G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2401692	NM_015688.2(FAM184B):c.1741G>C (p.Gly581Arg)	FAM184B (G581R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2392034	NM_015688.2(FAM184B):c.1072C>T (p.Arg358Trp)	FAM184B (R358W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2386903	NM_015688.2(FAM184B):c.1339C>T (p.Arg447Cys)	FAM184B (R447C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2386107	NM_015688.2(FAM184B):c.3001A>G (p.Ile1001Val)	FAM184B, MED28 (I1001V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2385792	NM_015688.2(FAM184B):c.2470G>C (p.Glu824Gln)	FAM184B (E824Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2381454	NM_015688.2(FAM184B):c.2351G>A (p.Arg784Gln)	FAM184B (R784Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2370459	NM_015688.2(FAM184B):c.398A>T (p.Glu133Val)	FAM184B (E133V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2355916	NM_015688.2(FAM184B):c.1568G>A (p.Arg523His)	FAM184B (R523H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2342727	NM_015688.2(FAM184B):c.1013G>A (p.Arg338His)	FAM184B (R338H)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2341877	NM_015688.2(FAM184B):c.2839C>T (p.Arg947Trp)	FAM184B (R947W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2338689	NM_015688.2(FAM184B):c.2446G>A (p.Asp816Asn)	FAM184B (D816N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2335922	NM_015688.2(FAM184B):c.215A>G (p.Glu72Gly)	FAM184B (E72G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2332337	NM_015688.2(FAM184B):c.210C>A (p.His70Gln)	FAM184B (H70Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2328414	NM_015688.2(FAM184B):c.1047G>T (p.Glu349Asp)	FAM184B (E349D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2321074	NM_015688.2(FAM184B):c.2347G>A (p.Glu783Lys)	FAM184B (E783K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2317307	NM_015688.2(FAM184B):c.959A>T (p.Lys320Ile)	FAM184B (K320I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2317268	NM_015688.2(FAM184B):c.2834G>A (p.Arg945Gln)	FAM184B (R945Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2312602	NM_015688.2(FAM184B):c.2900T>C (p.Val967Ala)	FAM184B, MED28 (V967A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2309349	NM_015688.2(FAM184B):c.1768A>G (p.Lys590Glu)	FAM184B (K590E)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2306743	NM_015688.2(FAM184B):c.707T>C (p.Met236Thr)	FAM184B (M236T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2301177	NM_015688.2(FAM184B):c.1321G>A (p.Val441Met)	FAM184B (V441M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2299682	NM_015688.2(FAM184B):c.643G>A (p.Ala215Thr)	FAM184B (A215T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2288030	NM_015688.2(FAM184B):c.2783C>T (p.Thr928Met)	FAM184B (T928M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2286482	NM_015688.2(FAM184B):c.1027A>G (p.Thr343Ala)	FAM184B (T343A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2283552	NM_015688.2(FAM184B):c.647G>A (p.Arg216His)	FAM184B (R216H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2282226	NM_015688.2(FAM184B):c.1451C>T (p.Ala484Val)	FAM184B (A484V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2265601	NM_015688.2(FAM184B):c.764G>C (p.Arg255Pro)	FAM184B (R255P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2261410	NM_015688.2(FAM184B):c.524G>A (p.Arg175Gln)	FAM184B (R175Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2259728	NM_015688.2(FAM184B):c.2990A>G (p.Asn997Ser)	FAM184B, MED28 (N997S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2245320	NM_015688.2(FAM184B):c.1984T>C (p.Ser662Pro)	FAM184B (S662P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2240928	NM_015688.2(FAM184B):c.1511T>C (p.Ile504Thr)	FAM184B (I504T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2233852	NM_015688.2(FAM184B):c.2759G>A (p.Arg920Lys)	FAM184B (R920K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2232863	NM_015688.2(FAM184B):c.2071C>T (p.His691Tyr)	FAM184B (H691Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2225604	NM_015688.2(FAM184B):c.3038G>A (p.Cys1013Tyr)	FAM184B, MED28 (C1013Y)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2221937	NM_015688.2(FAM184B):c.2914A>G (p.Ser972Gly)	FAM184B, MED28 (S972G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2216067	NM_015688.2(FAM184B):c.311T>C (p.Leu104Pro)	FAM184B (L104P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2208122	NM_015688.2(FAM184B):c.1167G>A (p.Met389Ile)	FAM184B (M389I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1809003	GRCh37/hg19 4p15.32-15.2(chr4:16249194-24864955)x1	ADGRA3, CCDC149 +16 more	Copy number loss	not provided	GUncertain significance
Select item 1711164	GRCh37/hg19 4p16.3-11(chr4:68345-49089361)x3	ABLIM2, ACOX3 +226 more	Copy number gain	See cases	GPathogenic
Select item 1707444	GRCh37/hg19 4p16.3-15.31(chr4:68345-20964575)x1	ABLIM2, ACOX3 +143 more	Copy number loss	See cases	GPathogenic
Select item 1704651	GRCh37/hg19 4p16.3-12(chr4:114784-47569569)x3	ABLIM2, ACOX3 +212 more	Copy number gain	FETAL DEMISE	GPathogenic
Select item 1527076	GRCh37/hg19 4p15.32-15.31(chr4:16826659-17818949)	CLRN2, DCAF16 +6 more	Copy number gain	not specified	GUncertain significance
Select item 1341071	GRCh37/hg19 4p16.3-15.31(chr4:68345-20587167)x1	HGFAC, UVSSA +141 more	Copy number loss	not provided	GPathogenic
Select item 1180546	GRCh37/hg19 4p16.3-15.1(chr4:69671-29702595)x3	FGFBP2, SMIM20 +161 more	Copy number gain	not provided	GPathogenic
Select item 1180545	GRCh37/hg19 4p16.3-15.31(chr4:68598-18912995)x1	RGS12, RNF212 +140 more	Copy number loss	not provided	GPathogenic
Select item 929396	GRCh37/hg19 4p16.3-11(chr4:49450-49620898)x3	KLF3, KLHL5 +226 more	Copy number gain	See cases	GPathogenic
Select item 872741	NM_015688.2(FAM184B):c.2971G>A (p.Asp991Asn)	FAM184B, MED28 (D991N)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 816497	GRCh37/hg19 4p16.3-15.2(chr4:49450-24280482)x1	ADD1, ABLIM2 +146 more	Copy number loss	See cases	GPathogenic
Select item 814536	GRCh37/hg19 4p15.32-15.31(chr4:16826786-17818949)x3	CLRN2, DCAF16 +6 more	Copy number gain	not provided	GLikely benign

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