ClinVar for Gene (Select 9710) - ClinVar

Links from Gene

Items: 98

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3344229	NM_014686.5(GARRE1):c.1357A>G (p.Thr453Ala)	GARRE1 (T453A)	Single nucleotide variant (missense variant)	KIAA0355-related condition	GUncertain significance
Select item 3280771	NM_014686.5(GARRE1):c.2343A>G (p.Ile781Met)	GARRE1 (I781M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3280770	NM_014686.5(GARRE1):c.3170C>G (p.Pro1057Arg)	GARRE1 (P1057R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3280769	NM_014686.5(GARRE1):c.3131C>T (p.Pro1044Leu)	GARRE1 (P1044L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3280767	NM_014686.5(GARRE1):c.317G>T (p.Arg106Met)	GARRE1 (R106M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3280766	NM_014686.5(GARRE1):c.1264G>A (p.Val422Met)	GARRE1 (V422M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3280765	NM_014686.5(GARRE1):c.2603G>A (p.Arg868His)	GARRE1 (R868H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3280764	NM_014686.5(GARRE1):c.2273A>G (p.His758Arg)	GARRE1 (H758R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3280763	NM_014686.5(GARRE1):c.572C>T (p.Pro191Leu)	GARRE1, LOC112543484 (P191L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3280762	NM_014686.5(GARRE1):c.691C>T (p.Arg231Trp)	GARRE1 (R231W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3280761	NM_014686.5(GARRE1):c.2752T>G (p.Ser918Ala)	GARRE1 (S918A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3280760	NM_014686.5(GARRE1):c.682C>T (p.Arg228Trp)	GARRE1 (R228W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3098591	NM_014686.5(GARRE1):c.98C>T (p.Pro33Leu)	GARRE1 (P33L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3098590	NM_014686.5(GARRE1):c.984G>T (p.Arg328Ser)	GARRE1 (R328S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3098589	NM_014686.5(GARRE1):c.953G>C (p.Ser318Thr)	GARRE1 (S318T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3098588	NM_014686.5(GARRE1):c.901G>A (p.Gly301Ser)	GARRE1 (G301S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3098587	NM_014686.5(GARRE1):c.880T>C (p.Cys294Arg)	GARRE1 (C294R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3098586	NM_014686.5(GARRE1):c.737A>T (p.Asp246Val)	GARRE1 (D246V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3098585	NM_014686.5(GARRE1):c.623G>A (p.Ser208Asn)	GARRE1, LOC112543484 (S208N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3098584	NM_014686.5(GARRE1):c.604G>A (p.Val202Met)	GARRE1, LOC112543484 (V202M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3098583	NM_014686.5(GARRE1):c.548C>A (p.Thr183Asn)	GARRE1, LOC112543484 (T183N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3098582	NM_014686.5(GARRE1):c.506G>A (p.Arg169Gln)	GARRE1, LOC112543484 (R169Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3098581	NM_014686.5(GARRE1):c.388C>T (p.Arg130Trp)	GARRE1 (R130W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3098580	NM_014686.5(GARRE1):c.385A>T (p.Ser129Cys)	GARRE1 (S129C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3098579	NM_014686.5(GARRE1):c.353A>G (p.Lys118Arg)	GARRE1 (K118R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3098578	NM_014686.5(GARRE1):c.3196T>C (p.Tyr1066His)	GARRE1 (Y1066H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3098577	NM_014686.5(GARRE1):c.3088G>A (p.Ala1030Thr)	GARRE1 (A1030T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3098576	NM_014686.5(GARRE1):c.3031A>G (p.Thr1011Ala)	GARRE1 (T1011A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3098575	NM_014686.5(GARRE1):c.2986G>A (p.Ala996Thr)	GARRE1 (A996T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3098574	NM_014686.5(GARRE1):c.2918A>G (p.Lys973Arg)	GARRE1 (K973R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3098573	NM_014686.5(GARRE1):c.2866T>C (p.Ser956Pro)	GARRE1 (S956P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3098572	NM_014686.5(GARRE1):c.2764G>A (p.Gly922Arg)	GARRE1 (G922R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3098571	NM_014686.5(GARRE1):c.2750C>T (p.Thr917Ile)	GARRE1 (T917I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3098570	NM_014686.5(GARRE1):c.2738C>T (p.Ser913Leu)	GARRE1 (S913L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3098569	NM_014686.5(GARRE1):c.265G>A (p.Val89Ile)	GARRE1 (V89I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3098568	NM_014686.5(GARRE1):c.2651A>G (p.His884Arg)	GARRE1 (H884R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3098567	NM_014686.5(GARRE1):c.2605C>T (p.Arg869Trp)	GARRE1 (R869W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3098566	NM_014686.5(GARRE1):c.2584C>T (p.Arg862Trp)	GARRE1 (R862W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3098565	NM_014686.5(GARRE1):c.2344T>C (p.Ser782Pro)	GARRE1 (S782P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3098564	NM_014686.5(GARRE1):c.2341A>C (p.Ile781Leu)	GARRE1 (I781L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3098563	NM_014686.5(GARRE1):c.2338G>A (p.Gly780Ser)	GARRE1 (G780S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3098562	NM_014686.5(GARRE1):c.2278T>A (p.Ser760Thr)	GARRE1 (S760T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3098561	NM_014686.5(GARRE1):c.2251C>T (p.Arg751Trp)	GARRE1 (R751W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3098560	NM_014686.5(GARRE1):c.2228C>T (p.Pro743Leu)	GARRE1 (P743L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3098559	NM_014686.5(GARRE1):c.2216A>C (p.Gln739Pro)	GARRE1 (Q739P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3098558	NM_014686.5(GARRE1):c.2183A>G (p.Gln728Arg)	GARRE1 (Q728R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3098557	NM_014686.5(GARRE1):c.2129C>T (p.Pro710Leu)	GARRE1 (P710L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3098556	NM_014686.5(GARRE1):c.196G>A (p.Ala66Thr)	GARRE1 (A66T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3098555	NM_014686.5(GARRE1):c.1961C>T (p.Ser654Leu)	GARRE1 (S654L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3098554	NM_014686.5(GARRE1):c.1868G>A (p.Arg623His)	GARRE1 (R623H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3098553	NM_014686.5(GARRE1):c.1765C>G (p.Gln589Glu)	GARRE1 (Q589E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3098552	NM_014686.5(GARRE1):c.1754A>G (p.Asp585Gly)	GARRE1 (D585G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3098551	NM_014686.5(GARRE1):c.1723G>A (p.Glu575Lys)	GARRE1 (E575K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3098550	NM_014686.5(GARRE1):c.1705T>G (p.Phe569Val)	GARRE1 (F569V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3098549	NM_014686.5(GARRE1):c.116G>A (p.Arg39Gln)	GARRE1 (R39Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3098548	NM_014686.5(GARRE1):c.1111A>G (p.Met371Val)	GARRE1 (M371V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3098547	NM_014686.5(GARRE1):c.1108A>G (p.Thr370Ala)	GARRE1 (T370A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3098546	NM_014686.5(GARRE1):c.1060G>A (p.Val354Ile)	GARRE1 (V354I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3098545	NM_014686.5(GARRE1):c.1006C>G (p.Gln336Glu)	GARRE1 (Q336E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3062386	GRCh37/hg19 19q11-13.2(chr19:28271146-41508851)x3	SLC7A9, SNRPA +215 more	Copy number gain	not specified	GPathogenic
Select item 2649703	NM_014686.5(GARRE1):c.2712G>A (p.Ser904=)	GARRE1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2649702	NM_014686.5(GARRE1):c.2634G>A (p.Pro878=)	GARRE1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2649701	NM_014686.5(GARRE1):c.2145G>A (p.Pro715=)	GARRE1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2649700	NM_014686.5(GARRE1):c.960G>A (p.Ala320=)	GARRE1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2649699	NM_014686.5(GARRE1):c.108G>A (p.Glu36=)	GARRE1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2601004	NM_014686.5(GARRE1):c.2257C>T (p.Pro753Ser)	GARRE1 (P753S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2588928	NM_014686.5(GARRE1):c.2921C>T (p.Thr974Met)	GARRE1 (T974M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2566775	NM_014686.5(GARRE1):c.957G>T (p.Glu319Asp)	GARRE1 (E319D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2561281	NM_014686.5(GARRE1):c.1715G>C (p.Gly572Ala)	GARRE1 (G572A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2559923	NM_014686.5(GARRE1):c.1690C>T (p.Pro564Ser)	GARRE1 (P564S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2557948	NM_014686.5(GARRE1):c.1706T>C (p.Phe569Ser)	GARRE1 (F569S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2543159	NM_014686.5(GARRE1):c.731G>C (p.Gly244Ala)	GARRE1 (G244A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2542952	NM_014686.5(GARRE1):c.2533C>G (p.Pro845Ala)	GARRE1 (P845A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2538087	NM_014686.5(GARRE1):c.46C>T (p.Arg16Cys)	GARRE1 (R16C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2522861	NM_014686.5(GARRE1):c.3185G>A (p.Arg1062His)	GARRE1 (R1062H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2520583	NM_014686.5(GARRE1):c.389G>A (p.Arg130Gln)	GARRE1 (R130Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2517673	NM_014686.5(GARRE1):c.1084G>A (p.Asp362Asn)	GARRE1 (D362N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2510570	NM_014686.5(GARRE1):c.2885C>T (p.Thr962Met)	GARRE1 (T962M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2493217	NM_014686.5(GARRE1):c.3089C>A (p.Ala1030Asp)	GARRE1 (A1030D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2476419	NM_014686.5(GARRE1):c.2299G>T (p.Ala767Ser)	GARRE1 (A767S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2473690	NM_014686.5(GARRE1):c.3070A>C (p.Asn1024His)	GARRE1 (N1024H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2464237	NM_014686.5(GARRE1):c.3155G>A (p.Gly1052Asp)	GARRE1 (G1052D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2457272	NM_014686.5(GARRE1):c.570G>T (p.Gln190His)	GARRE1, LOC112543484 (Q190H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2424426	NC_000019.9:g.(?_33167170)_(36643309_?)dup	ALKBH6, APLP1 +83 more	Duplication	Hereditary spastic paraplegia 75	GUncertain significance
Select item 1808040	GRCh37/hg19 19q13.11(chr19:34737425-34779637)x1	GARRE1	Copy number loss	not provided	GUncertain significance
Select item 1526660	GRCh37/hg19 19q13.11(chr19:32827535-35263640)	ANKRD27, CEBPA +28 more	Copy number gain	not specified	GUncertain significance
Select item 1330177	GRCh37/hg19 19p13.11-q13.2(chr19:19546923-41313229)x3	ACP7, ACTMAP +255 more	Copy number gain	Specific learning disability	GPathogenic
Select item 816076	GRCh37/hg19 19q13.11(chr19:34843028-34866344)x1	GARRE1, GPI	Copy number loss	not provided	GUncertain significance
Select item 685025	GRCh37/hg19 19q11-13.33(chr19:28271106-49213832)x3	ZNF607, ZNF780A +432 more	Copy number gain	not provided	GPathogenic
Select item 443499	GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)	PGLYRP1, PGLYRP2 +1364 more	Copy number gain	See cases	GPathogenic
Select item 443498	GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)x3	TMC4, TMED1 +1364 more	Copy number gain	See cases	GPathogenic
Select item 394109	GRCh37/hg19 19q12-13.12(chr19:30735448-36120396)x3	ANKRD27, ATP4A +58 more	Copy number gain	See cases	GPathogenic
Select item 155638	GRCh38/hg38 19q11-13.11(chr19:27780238-34783942)x3	ANKRD27, C19orf12 +210 more	Copy number gain	See cases	GUncertain significance
Select item 153499	GRCh38/hg38 19q12-13.12(chr19:31367353-35417098)x1	ANKRD27, CD22 +193 more	Copy number loss	See cases	GPathogenic
Select item 147631	GRCh38/hg38 19q12-13.13(chr19:29671324-37902990)x1	ALKBH6, ANKRD27 +439 more	Copy number loss	See cases	GPathogenic
Select item 146619	GRCh38/hg38 19q12-13.13(chr19:29661858-38114723)x1	ALKBH6, ANKRD27 +459 more	Copy number loss	See cases	GPathogenic
Select item 144406	GRCh38/hg38 19p13.2-q13.31(chr19:11227942-44626354)x3	ABHD8, ACP5 +2135 more	Copy number gain	See cases	GPathogenic
Select item 57042	GRCh38/hg38 19p13.11-q13.11(chr19:17176767-34924150)x3	LOC130064154, LOC130064155 +625 more	Copy number gain	See cases	GPathogenic

ClinVar

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Links from Gene

Items: 98