ClinVar for Gene (Select 85002) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3277559	NM_001083537.4(FAM86B1):c.322G>T (p.Ala108Ser)	FAM85A, FAM86B1 (A108S)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3277558	NM_001083537.4(FAM86B1):c.432G>A (p.Met144Ile)	FAM85A, FAM86B1 (M144I)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3277557	NM_001083537.4(FAM86B1):c.620C>T (p.Pro207Leu)	FAM85A, FAM86B1 (P207L)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3277556	NM_001083537.4(FAM86B1):c.316G>C (p.Asp106His)	FAM85A, FAM86B1 (D106H)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3277553	NM_001083537.4(FAM86B1):c.731T>C (p.Val244Ala)	FAM86B1 (V244A)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3242300	GRCh37/hg19 8p23.1(chr8:7153587-12245784)x3	BLK, C8orf74 +48 more	Copy number gain	not provided	GPathogenic
Select item 3148928	GRCh37/hg19 8p23.3-22(chr8:158049-16225393)x3	AGPAT5, ANGPT2 +77 more	Copy number gain	See cases	GPathogenic
Select item 3092674	NM_001083537.4(FAM86B1):c.824A>C (p.His275Pro)	FAM86B1 (H275P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3092673	NM_001083537.4(FAM86B1):c.760G>C (p.Glu254Gln)	FAM86B1 (E254Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3092672	NM_001083537.4(FAM86B1):c.752G>A (p.Arg251His)	FAM86B1 (R251H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3092671	NM_001083537.4(FAM86B1):c.596T>C (p.Val199Ala)	FAM85A, FAM86B1 (V199A)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GLikely benign
Select item 3092670	NM_001083537.4(FAM86B1):c.458G>A (p.Ser153Asn)	FAM85A, FAM86B1 (S153N)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3092669	NM_001083537.4(FAM86B1):c.436C>T (p.Arg146Cys)	FAM85A, FAM86B1 (R146C)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3092668	NM_001083537.4(FAM86B1):c.375G>C (p.Arg125Ser)	FAM85A, FAM86B1 (R125S)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3092667	NM_001083537.4(FAM86B1):c.346A>T (p.Ile116Phe)	FAM85A, FAM86B1 (I116F)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3063027	GRCh37/hg19 8p23.3-11.21(chr8:158048-41600696)x3	ADAM18, ADAM2 +234 more	Copy number gain	not specified	GPathogenic
Select item 3063013	GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771)x3	AARD, ABRA +665 more	Copy number gain	not specified	GPathogenic
Select item 2684526	GRCh37/hg19 8p23.1-11.23(chr8:11945856-37902453)x3	ADAM28, ADAM7 +140 more	Copy number gain	not provided	GPathogenic
Select item 2684522	GRCh37/hg19 8p23.1-22(chr8:8093169-14526969)x3	BLK, C8orf48 +34 more	Copy number gain	not provided	GPathogenic
Select item 2684517	GRCh37/hg19 8p23.2-11.21(chr8:2201405-41723095)x3	SMIM18, SORBS3 +225 more	Copy number gain	not provided	GPathogenic
Select item 2658431	NM_001083537.4(FAM86B1):c.876G>A (p.Leu292=)	FAM86B1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2621289	NM_001083537.4(FAM86B1):c.4G>C (p.Ala2Pro)	FAM85A, FAM86B1 (A2P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2580324	GRCh37/hg19 8p23.1(chr8:7080281-12045269)x3	BLK, C8orf74 +47 more	Copy number gain	8p23.1 duplication syndrome	GPathogenic
Select item 2579290	GRCh38/hg38 8p23.3-21.2(chr8:449893-23854904)x1	LOC126860300, LOC126860301 +720 more	Copy number loss	Neurodevelopmental disorder	GPathogenic
Select item 2569087	NM_001083537.4(FAM86B1):c.25A>G (p.Thr9Ala)	FAM85A, FAM86B1 (T9A)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2530252	NM_001083537.4(FAM86B1):c.867G>A (p.Met289Ile)	FAM86B1 (M289I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2528893	NM_001083537.4(FAM86B1):c.290A>C (p.His97Pro)	FAM85A, FAM86B1 (H97P)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2515888	NM_001083537.4(FAM86B1):c.764C>T (p.Thr255Met)	FAM86B1 (T255M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2515763	NM_001083537.4(FAM86B1):c.51G>T (p.Glu17Asp)	FAM85A, FAM86B1 (E17D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2511800	NM_001083537.4(FAM86B1):c.473G>A (p.Arg158Gln)	FAM85A, FAM86B1 (R158Q)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2463057	NM_001083537.4(FAM86B1):c.419C>T (p.Ala140Val)	FAM85A, FAM86B1 (A140V)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2459272	NM_001083537.4(FAM86B1):c.676G>A (p.Val226Ile)	FAM86B1 (V226I +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2400609	NM_001083537.4(FAM86B1):c.583G>A (p.Asp195Asn)	FAM85A, FAM86B1 (D195N)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2399328	NM_001083537.4(FAM86B1):c.349G>A (p.Glu117Lys)	FAM85A, FAM86B1 (E117K)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2387642	NM_001083537.4(FAM86B1):c.448T>A (p.Tyr150Asn)	FAM85A, FAM86B1 (Y150N)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2383003	NM_001083537.4(FAM86B1):c.718C>T (p.Arg240Trp)	FAM86B1 (A151V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2383002	NM_001083537.4(FAM86B1):c.569C>T (p.Ala190Val)	FAM85A, FAM86B1 (A190V)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2381803	NM_001083537.4(FAM86B1):c.784G>A (p.Glu262Lys)	FAM86B1 (E262K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2380648	NM_001083537.4(FAM86B1):c.707G>A (p.Arg236Gln)	FAM86B1 (R236Q)	Single nucleotide variant (missense variant +2 more)	not specified	GLikely benign
Select item 2372898	NM_001083537.4(FAM86B1):c.679G>A (p.Gly227Arg)	FAM86B1 (R138Q +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2372837	NM_001083537.4(FAM86B1):c.682G>T (p.Val228Phe)	FAM86B1 (V228F +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2355376	NM_001083537.4(FAM86B1):c.464C>G (p.Pro155Arg)	FAM85A, FAM86B1 (P155R)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2355375	NM_001083537.4(FAM86B1):c.463C>T (p.Pro155Ser)	FAM85A, FAM86B1 (P155S)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2352727	NM_001083537.4(FAM86B1):c.292G>A (p.Gly98Ser)	FAM85A, FAM86B1 (G98S)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2346795	NM_001083537.4(FAM86B1):c.689A>G (p.Gln230Arg)	FAM86B1 (Q230R)	Single nucleotide variant (missense variant +2 more)	not specified	GLikely benign
Select item 2343585	NM_001083537.4(FAM86B1):c.549C>A (p.Asp183Glu)	FAM85A, FAM86B1 (D183E)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GLikely benign
Select item 2343448	NM_001083537.4(FAM86B1):c.697G>C (p.Ala233Pro)	FAM86B1 (A233P +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2329951	NM_001083537.4(FAM86B1):c.443G>C (p.Arg148Pro)	FAM85A, FAM86B1 (R148P)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2305873	NM_001083537.4(FAM86B1):c.437G>T (p.Arg146Leu)	FAM85A, FAM86B1 (R146L)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2296369	NM_001083537.4(FAM86B1):c.68T>C (p.Val23Ala)	FAM85A, FAM86B1 (V23A)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2296368	NM_001083537.4(FAM86B1):c.65C>T (p.Ala22Val)	FAM85A, FAM86B1 (A22V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2296367	NM_001083537.4(FAM86B1):c.52C>A (p.Arg18Ser)	FAM85A, FAM86B1 (R18S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2294186	NM_001083537.4(FAM86B1):c.828T>G (p.His276Gln)	FAM86B1 (H276Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2286227	NM_001083537.4(FAM86B1):c.169C>T (p.His57Tyr)	FAM85A, FAM86B1 (H57Y)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2244443	NM_001083537.4(FAM86B1):c.55C>G (p.Arg19Gly)	FAM85A, FAM86B1 (R19G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2237620	NM_001083537.4(FAM86B1):c.611C>T (p.Ala204Val)	FAM85A, FAM86B1 (A204V)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2213381	NM_001083537.4(FAM86B1):c.256G>T (p.Val86Phe)	FAM85A, FAM86B1 (V86F)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2207668	NM_001083537.4(FAM86B1):c.603G>C (p.Gln201His)	FAM85A, FAM86B1 (Q201H)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2205522	NM_001083537.4(FAM86B1):c.215G>T (p.Cys72Phe)	FAM85A, FAM86B1 (C72F)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 1807804	GRCh37/hg19 8p23.1(chr8:8093066-12548732)x1	CTSB, DEFB130A +29 more	Copy number loss	not provided	GPathogenic
Select item 1807751	GRCh37/hg19 8p23.3-22(chr8:158049-18936715)x1	AGPAT5, ANGPT2 +93 more	Copy number loss	not provided	GPathogenic
Select item 1711134	Single allele	CDCA2, CLDN23 +250 more	Complex	See cases	GPathogenic
Select item 1707427	GRCh37/hg19 8p23.3-12(chr8:158048-30187456)x1	ADAM28, ADAM7 +180 more	Copy number loss	See cases	GPathogenic
Select item 1703665	Single allele	ADAMDEC1, ADGRA2 +251 more	Complex	8p inverted duplication/deletion syndrome	GPathogenic
Select item 1703544	GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771)	AARD, ABRA +665 more	Copy number gain	Polydactyly	GPathogenic
Select item 997076	GRCh37/hg19 8p23.3-11.1(chr8:176814-43396776)	SPAG11A, STMN4 +252 more	Copy number gain	Abnormal fetal cardiovascular morphology	GPathogenic
Select item 687787	GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771)x3	BAALC, CNOT7 +665 more	Copy number gain	not provided	GPathogenic
Select item 687060	GRCh37/hg19 8p23.3-22(chr8:158048-14214722)x1	USP17L4, USP17L7 +75 more	Copy number loss	not provided	GPathogenic
Select item 625668	GRCh37/hg19 8p23.3-22(chr8:194617-13947374)	DEFB130A, DEFB134 +75 more	Copy number gain	not provided	GPathogenic
Select item 563553	GRCh37/hg19 8p23.3-21.2(chr8:1825200-24533193)x3	ADAM28, ADAM7 +136 more	Copy number gain	not provided	GPathogenic
Select item 563552	GRCh37/hg19 8p23.1-21.2(chr8:8770948-27079636)x3	DLC1, DMTN +111 more	Copy number gain	not provided	GPathogenic
Select item 563551	GRCh37/hg19 8p23.3-22(chr8:158048-15423270)x3	LONRF1, NEIL2 +76 more	Copy number gain	not provided	GPathogenic
Select item 563550	GRCh37/hg19 8p23.3-22(chr8:158048-13974319)x3	DEFB105A, USP17L1 +75 more	Copy number gain	not provided	GPathogenic
Select item 563548	GRCh37/hg19 8p23.3-22(chr8:168483-13147575)x1,2	MTMR9, MYOM2 +73 more	Copy number gain	not provided	GPathogenic
Select item 443715	GRCh37/hg19 8p23.1-12(chr8:11945855-34875355)x3	ASAH1-AS1, ATP6V1B2 +129 more	Copy number gain	See cases	GPathogenic
Select item 443194	GRCh37/hg19 8p23.1-11.1(chr8:11935023-43824035)x3	ADAM18, ADAM2 +186 more	Copy number gain	See cases	GPathogenic
Select item 442870	GRCh37/hg19 8p23.3-22(chr8:158048-13309069)x1	AGPAT5, ANGPT2 +73 more	Copy number loss	See cases	GLikely pathogenic
Select item 442555	GRCh37/hg19 8p23.1-22(chr8:11935023-18814062)x3	ASAH1, ASAH1-AS1 +27 more	Copy number gain	See cases	GLikely pathogenic
Select item 442201	GRCh37/hg19 8p23.3-q24.3(chr8:158049-146295771)x3	AARD, ABRA +665 more	Copy number gain	See cases	GPathogenic
Select item 442200	GRCh37/hg19 8p23.3-q24.3(chr8:158049-146295771)	FGF20, FGFR1 +665 more	Copy number gain	See cases	GPathogenic
Select item 394884	GRCh37/hg19 8p23.3-q24.3(chr8:158991-146280828)x3	SCRT1, SCX +665 more	Copy number gain	See cases	GPathogenic
Select item 394656	GRCh37/hg19 8p23.3-22(chr8:158991-17536147)x4	AGPAT5, ANGPT2 +86 more	Copy number gain	See cases	GPathogenic
Select item 253407	GRCh37/hg19 8p23.3-22(chr8:158991-13304906)x3	DEFB135, DEFB136 +73 more	Copy number gain	See cases	GPathogenic
Select item 221719	GRCh37/hg19 8p23.1(chr8:8131816-12249050)x1	BLK, C8orf74 +28 more	Copy number loss	Premature ovarian failure	GPathogenic
Select item 161086	GRCh38/hg38 8p23.1(chr8:8222339-12182465)x1	BLK, C8orf74 +205 more	Copy number loss	See cases	GPathogenic
Select item 161037	GRCh38/hg38 8p23.2-21.1(chr8:2475295-27504279)x1	ADAM28, ADAM7 +773 more	Copy number loss	See cases	GPathogenic
Select item 155181	GRCh38/hg38 8p23.3-23.1(chr8:226452-12698554)x3	LOC129999827, LOC129999828 +393 more	Copy number gain	See cases	GPathogenic
Select item 154989	GRCh38/hg38 8p23.1(chr8:11948252-12546557)x3	DEFB130A, DEFB130B +14 more	Copy number gain	See cases	GBenign
Select item 154791	GRCh38/hg38 8p23.3-q24.3(chr8:226452-145068712)x3	AARD, ABRA +3663 more	Copy number gain	See cases	GPathogenic
Select item 154643	GRCh38/hg38 8p23.1(chr8:8273108-12610034)x1	BLK, C8orf74 +206 more	Copy number loss	See cases	GPathogenic
Select item 153413	GRCh38/hg38 8p23.3-q24.3(chr8:208048-145070385)x3	LOC126860438, LOC126860439 +3663 more	Copy number gain	See cases	GPathogenic
Select item 152917	GRCh38/hg38 8p23.3-22(chr8:226452-16280146)x3	LOC101929290, LOC102723313 +448 more	Copy number gain	See cases	GPathogenic
Select item 152909	GRCh38/hg38 8p23.3-12(chr8:226452-34491890)x3	LOC130000099, LOC130000100 +1040 more	Copy number gain	See cases	GPathogenic
Select item 151133	GRCh38/hg38 8p23.1-11.22(chr8:7141697-38695546)x3	DPYSL2, DUSP26 +1020 more	Copy number gain	See cases	GPathogenic
Select item 150888	GRCh38/hg38 8p23.1(chr8:12127758-12182469)x3	FAM66D, FAM86B1 +2 more	Copy number gain	See cases	GLikely benign
Select item 150733	GRCh38/hg38 8p23.1-11.23(chr8:11851113-37216333)x3	LOC126860319, LOC126860320 +696 more	Copy number gain	See cases	GPathogenic
Select item 149882	GRCh38/hg38 8p23.3-12(chr8:241605-31091074)x3	LOC129999950, LOC129999951 +996 more	Copy number gain	See cases	GPathogenic
Select item 149809	GRCh38/hg38 8p23.1(chr8:12095338-12585258)x3	DEFB130A, FAM66A +10 more	Copy number gain	See cases	GBenign
Select item 149660	GRCh38/hg38 8p23.3-q24.3(chr8:241605-145054781)x3	AARD, ABRA +3661 more	Copy number gain	See cases	GPathogenic
Select item 149529	GRCh38/hg38 8p23.1(chr8:7103661-12299882)x3	DEFB103B, DEFB104A +256 more	Copy number gain	See cases	GPathogenic

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