ClinVar for Gene (Select 149647) - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Links from Gene

Items: 78

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3280730	NM_153606.4(GARIN4):c.383G>A (p.Arg128Gln)	GARIN4 (R128Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3280729	NM_153606.4(GARIN4):c.1670C>T (p.Ala557Val)	GARIN4 (A557V)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3280728	NM_153606.4(GARIN4):c.281G>A (p.Gly94Asp)	GARIN4 (G94D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3280726	NM_153606.4(GARIN4):c.536A>G (p.Glu179Gly)	GARIN4 (E179G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3280725	NM_153606.4(GARIN4):c.863C>G (p.Ala288Gly)	GARIN4 (A288G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3280724	NM_153606.4(GARIN4):c.1367A>G (p.Gln456Arg)	GARIN4 (Q456R)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3280723	NM_153606.4(GARIN4):c.1552G>A (p.Gly518Ser)	GARIN4 (G518S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3248093	NC_000001.10:g.(?_190829412)_(216061974_?)del	RPS6KC1, SERTAD4 +185 more	Deletion	not provided	GPathogenic
Select item 3098449	NM_153606.4(GARIN4):c.985C>T (p.Leu329Phe)	GARIN4 (L329F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3098448	NM_153606.4(GARIN4):c.883G>A (p.Ala295Thr)	GARIN4 (A295T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3098447	NM_153606.4(GARIN4):c.857G>A (p.Gly286Glu)	GARIN4 (G286E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3098446	NM_153606.4(GARIN4):c.68C>T (p.Thr23Ile)	GARIN4 (T23I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3098445	NM_153606.4(GARIN4):c.655G>A (p.Val219Ile)	GARIN4 (V219I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3098444	NM_153606.4(GARIN4):c.643G>A (p.Asp215Asn)	GARIN4 (D215N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3098443	NM_153606.4(GARIN4):c.514T>G (p.Tyr172Asp)	GARIN4 (Y172D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3098442	NM_153606.4(GARIN4):c.482A>C (p.Asp161Ala)	GARIN4 (D161A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3098441	NM_153606.4(GARIN4):c.347T>C (p.Leu116Ser)	GARIN4 (L116S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3098440	NM_153606.4(GARIN4):c.335C>A (p.Ala112Glu)	GARIN4 (A112E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3098439	NM_153606.4(GARIN4):c.328C>T (p.Arg110Cys)	GARIN4 (R110C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3098438	NM_153606.4(GARIN4):c.322A>G (p.Lys108Glu)	GARIN4 (K108E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3098437	NM_153606.4(GARIN4):c.251A>G (p.Asp84Gly)	GARIN4 (D84G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3098436	NM_153606.4(GARIN4):c.22C>T (p.Pro8Ser)	GARIN4 (P8S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3098435	NM_153606.4(GARIN4):c.179T>C (p.Ile60Thr)	GARIN4 (I60T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3098434	NM_153606.4(GARIN4):c.1682C>T (p.Thr561Ile)	GARIN4 (T561I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3098433	NM_153606.4(GARIN4):c.1661C>A (p.Ala554Asp)	GARIN4 (A554D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3098432	NM_153606.4(GARIN4):c.1633C>G (p.Pro545Ala)	GARIN4 (P545A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3098431	NM_153606.4(GARIN4):c.1625T>C (p.Val542Ala)	GARIN4 (V542A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3098430	NM_153606.4(GARIN4):c.1493T>A (p.Ile498Asn)	GARIN4 (I498N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3098429	NM_153606.4(GARIN4):c.145G>A (p.Asp49Asn)	GARIN4 (D49N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3098428	NM_153606.4(GARIN4):c.1442C>T (p.Pro481Leu)	GARIN4 (P481L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3098427	NM_153606.4(GARIN4):c.1435G>A (p.Gly479Ser)	GARIN4 (G479S)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3098426	NM_153606.4(GARIN4):c.1421A>G (p.Lys474Arg)	GARIN4 (K474R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3098425	NM_153606.4(GARIN4):c.1337G>A (p.Arg446His)	GARIN4 (R446H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3098424	NM_153606.4(GARIN4):c.1336C>T (p.Arg446Cys)	GARIN4 (R446C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3098423	NM_153606.4(GARIN4):c.131C>T (p.Pro44Leu)	GARIN4 (P44L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3098422	NM_153606.4(GARIN4):c.1315C>T (p.Arg439Cys)	GARIN4 (R439C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3098421	NM_153606.4(GARIN4):c.1313A>G (p.His438Arg)	GARIN4 (H438R)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3098420	NM_153606.4(GARIN4):c.1150G>A (p.Glu384Lys)	GARIN4 (E384K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3098419	NM_153606.4(GARIN4):c.1137C>G (p.Ser379Arg)	GARIN4 (S379R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3098418	NM_153606.4(GARIN4):c.1124T>A (p.Val375Glu)	GARIN4 (V375E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3098417	NM_153606.4(GARIN4):c.110A>G (p.Tyr37Cys)	GARIN4 (Y37C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3098416	NM_153606.4(GARIN4):c.10G>T (p.Asp4Tyr)	GARIN4 (D4Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3098415	NM_153606.4(GARIN4):c.1036G>C (p.Gly346Arg)	GARIN4 (G346R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2592709	NM_153606.4(GARIN4):c.1699G>A (p.Glu567Lys)	GARIN4 (E567K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2569167	NM_153606.4(GARIN4):c.258G>T (p.Met86Ile)	GARIN4 (M86I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2544463	NM_153606.4(GARIN4):c.101A>C (p.Lys34Thr)	GARIN4 (K34T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2540361	NM_153606.4(GARIN4):c.743T>G (p.Phe248Cys)	GARIN4 (F248C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2515786	NM_153606.4(GARIN4):c.478C>G (p.Arg160Gly)	GARIN4 (R160G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2513855	NM_153606.4(GARIN4):c.1322G>A (p.Arg441Lys)	GARIN4 (R441K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2507543	NM_153606.4(GARIN4):c.237C>G (p.Ile79Met)	GARIN4 (I79M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2485841	NM_153606.4(GARIN4):c.223C>A (p.Arg75Ser)	GARIN4 (R75S)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2481862	NM_153606.4(GARIN4):c.1169C>G (p.Ala390Gly)	GARIN4 (A390G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2458806	NM_153606.4(GARIN4):c.612C>G (p.Ser204Arg)	GARIN4 (S204R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2457138	NM_153606.4(GARIN4):c.325A>G (p.Lys109Glu)	GARIN4 (K109E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1809607	GRCh38/hg38 1q32.2-42.13(chr1:228006998-228061271)x2	LOC126806029, LOC129932471 +720 more	Copy number loss	Orofacial cleft 2	Gassociation
Select item 1809264	GRCh37/hg19 1q25.3-32.3(chr1:181453460-213107248)x3	ASPM, IPO9 +211 more	Copy number gain	not provided	GPathogenic
Select item 1708464	GRCh37/hg19 1q31.3-44(chr1:197867914-249224684)x3	COA6, COG2 +381 more	Copy number gain	See cases	GPathogenic
Select item 1338832	GRCh38/hg38 1q32.3(chr1:212337801-213362035)	LOC122149494, LOC122149495 +66 more	Copy number loss	Diaphragmatic hernia	GUncertain significance
Select item 1003645	NC_000001.10:g.(?_130980840)_(248900000_?)dup	FCGR3A, LCE3C +956 more	Duplication	Parathyroid carcinoma +2 more	GUncertain significance
Select item 929379	GRCh37/hg19 1q32.2-44(chr1:210152794-249218992)x3	CHML, CHRM3 +250 more	Copy number gain	See cases	GPathogenic
Select item 816482	GRCh37/hg19 1q32.1-44(chr1:204045948-249218992)x3	C1orf35, C1orf74 +320 more	Copy number gain	See cases	GPathogenic
Select item 767747	NM_153606.4(GARIN4):c.1071C>T (p.Ser357=)	GARIN4	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 767746	NM_153606.4(GARIN4):c.873C>G (p.Thr291=)	GARIN4	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 710838	NM_153606.4(GARIN4):c.1663A>T (p.Lys555Ter)	GARIN4 (K555*)	Single nucleotide variant (nonsense)	not provided	GLikely benign
Select item 688022	GRCh37/hg19 1q32.1-32.3(chr1:206329070-213263817)x3	ANGEL2, ATF3 +63 more	Copy number gain	not provided	GUncertain significance
Select item 685144	GRCh37/hg19 1q25.3-44(chr1:182388773-249111240)x3	C4BPB, CACNA1S +433 more	Copy number gain	not provided	GPathogenic
Select item 523270	GRCh37/hg19 1q32.1-32.3(chr1:204682513-212815646)	CAMK1G, CD34 +75 more	Copy number loss	Global developmental delay +2 more	GPathogenic
Select item 442387	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)	CD34, CD46 +2014 more	Copy number gain	See cases	GPathogenic
Select item 442386	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3	GPATCH2, GPATCH3 +2014 more	Copy number gain	See cases	GPathogenic
Select item 394081	GRCh37/hg19 1q31.3-44(chr1:195483439-249213000)x3	AVPR1B, B3GALNT2 +393 more	Copy number gain	See cases	GPathogenic
Select item 254111	NM_153606.4(GARIN4):c.1475G>A (p.Gly492Asp)	GARIN4 (G492D)	Single nucleotide variant (missense variant)	Oromandibular-limb hypogenesis spectrum	GLikely benign
Select item 254110	NM_153606.4(GARIN4):c.1465T>C (p.Ser489Pro)	GARIN4 (S489P)	Single nucleotide variant (missense variant)	Oromandibular-limb hypogenesis spectrum	GLikely benign
Select item 253654	GRCh37/hg19 1q31.3-42.13(chr1:197811907-228997888)x3	ACBD3, ADIPOR1 +242 more	Copy number gain	See cases	GPathogenic
Select item 155660	GRCh38/hg38 1q32.2-44(chr1:207346642-248930485)x3	ABCB10, ACBD3 +1428 more	Copy number gain	See cases	GPathogenic
Select item 153790	GRCh38/hg38 1q32.1-42.12(chr1:204764914-225408698)x3	LOC129388734, LOC129388735 +723 more	Copy number gain	See cases	GPathogenic
Select item 145652	GRCh38/hg38 1q32.2-44(chr1:209963625-248918469)x3	ABCB10, ACBD3 +1326 more	Copy number gain	See cases	GPathogenic
Select item 58116	GRCh38/hg38 1q32.2-44(chr1:209646207-248931113)x3	LOC120908923, LOC120947224 +1352 more	Copy number gain	See cases	GPathogenic
Select item 58112	GRCh38/hg38 1q31.1-42.11(chr1:187143981-224299417)x3	LOC129932539, LOC129932540 +1148 more	Copy number gain	See cases	GPathogenic

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Links from Gene

Items: 78