ClinVar for Gene (Select 51318) - ClinVar

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Links from Gene

Items: 46

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3207546	NM_016622.4(MRPL35):c.516C>T (p.Tyr172=)	MRPL35	Single nucleotide variant (synonymous variant +1 more)	not specified	GLikely benign
Select item 3207533	NM_016622.4(MRPL35):c.400T>C (p.Trp134Arg)	MRPL35 (W134R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3207531	NM_016622.4(MRPL35):c.397T>A (p.Leu133Ile)	MRPL35 (L133I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3207518	NM_016622.4(MRPL35):c.206G>A (p.Cys69Tyr)	MRPL35 (C69Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3207516	NM_016622.4(MRPL35):c.133C>T (p.Arg45Cys)	MRPL35 (R45C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2594832	NM_016622.4(MRPL35):c.319G>A (p.Val107Met)	MRPL35 (V107M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2548631	NM_016622.4(MRPL35):c.314A>G (p.Lys105Arg)	MRPL35 (K105R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2426780	NC_000002.11:g.(?_85766411)_(86564633_?)del	ATOH8, C2orf68 +15 more	Deletion	Hereditary spastic paraplegia 31	GPathogenic
Select item 2395221	NM_016622.4(MRPL35):c.428G>A (p.Arg143Gln)	MRPL35 (R143Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2390329	NM_016622.4(MRPL35):c.7G>A (p.Ala3Thr)	LOC129934248, MRPL35 (A3T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2352488	NM_016622.4(MRPL35):c.506G>A (p.Arg169Gln)	MRPL35 (R169Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1879530	GRCh37/hg19 2p11.2(chr2:86292397-86509365)x3	REEP1, IMMT +3 more	Copy number gain	not provided	GUncertain significance
Select item 1809304	GRCh37/hg19 2p11.2(chr2:85786007-86559358)x3	ATOH8, C2orf68 +14 more	Copy number gain	not provided	GUncertain significance
Select item 1708190	GRCh37/hg19 2p25.1-q13(chr2:11504318-111365996)x1	ACTG2, ACTR1B +529 more	Copy number loss	See cases	GPathogenic
Select item 1703543	GRCh37/hg19 2p25.3-q37.3(chr2:1-243199373)	ABCA12, ABCB11 +1216 more	Copy number gain	Mosaic trisomy 2	GPathogenic
Select item 1526840	GRCh37/hg19 2p12-11.2(chr2:82486900-87322042)	ATOH8, C2orf68 +35 more	Copy number loss	not specified	GPathogenic
Select item 1411951	NC_000002.11:g.(?_86292377)_(86509385_?)dup	IMMT, MRPL35 +3 more	Duplication	not provided	GUncertain significance
Select item 1410487	NC_000002.11:g.(?_86067267)_(87017948_?)del	IMMT, PTCD3 +10 more	Deletion	Susceptibility to respiratory infections associated with CD8alpha chain mutation	GUncertain significance
Select item 1180533	GRCh37/hg19 2p12-11.2(chr2:81209244-86688030)x1	ELMOD3, GGCX +27 more	Copy number loss	not provided	GPathogenic
Select item 980433	GRCh37/hg19 2p11.2(chr2:85786006-86559358)x3	GGCX, VAMP5 +14 more	Copy number gain	not provided	GUncertain significance
Select item 814280	GRCh37/hg19 2p11.2(chr2:86286478-86516984)x3	MRPL35, REEP1 +3 more	Copy number gain	not provided	GUncertain significance
Select item 685965	GRCh37/hg19 2p11.2(chr2:85948835-86438539)x3	ST3GAL5, ATOH8 +4 more	Copy number gain	not provided	GUncertain significance
Select item 685879	GRCh37/hg19 2p12-11.2(chr2:77907114-87330965)x1	ATOH8, C2orf68 +41 more	Copy number loss	not provided	GPathogenic
Select item 562678	GRCh37/hg19 2p13.1-11.2(chr2:74527522-89125488)x1	ATOH8, AUP1 +78 more	Copy number loss	not provided	GPathogenic
Select item 524189	Single allele	ACMSD, C2orf27A +486 more	Deletion	not provided	GLikely pathogenic
Select item 443280	GRCh37/hg19 2p11.2(chr2:86285942-86519023)x4	IMMT, MRPL35 +3 more	Copy number gain	See cases	GUncertain significance
Select item 443069	GRCh37/hg19 2p11.2(chr2:86286440-86505779)x3	IMMT, MRPL35 +3 more	Copy number gain	See cases	GUncertain significance
Select item 442998	GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384)	RGPD4, RGPD5 +1214 more	Copy number gain	See cases	GPathogenic
Select item 442997	GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384)x3	IL1F10, IL1R1 +1214 more	Copy number gain	See cases	GPathogenic
Select item 442633	GRCh37/hg19 2p13.1-11.2(chr2:74365484-89129064)x1	SFTPB, SH2D6 +81 more	Copy number loss	See cases	GPathogenic
Select item 442440	GRCh37/hg19 2p11.2(chr2:86286136-86516984)x3	IMMT, MRPL35 +3 more	Copy number gain	See cases	GUncertain significance
Select item 442345	GRCh37/hg19 2p11.2(chr2:86285942-86519246)x3	IMMT, MRPL35 +3 more	Copy number gain	See cases	GUncertain significance
Select item 441798	GRCh37/hg19 2p11.2(chr2:86285942-86516984)x3	IMMT, MRPL35 +3 more	Copy number gain	See cases	Gconflicting data from submitters
Select item 441573	GRCh37/hg19 2p11.2(chr2:86285942-86506132)x4	IMMT, MRPL35 +3 more	Copy number gain	See cases	GLikely benign
Select item 441557	GRCh37/hg19 2p11.2(chr2:86285942-86506131)x3	IMMT, MRPL35 +3 more	Copy number gain	See cases	GLikely benign
Select item 394890	GRCh37/hg19 2p11.2(chr2:86298862-86509267)x3	IMMT, MRPL35 +3 more	Copy number gain	See cases	GUncertain significance
Select item 254026	GRCh37/hg19 2p11.2(chr2:86298862-86509326)x3	IMMT, PTCD3 +3 more	Copy number gain	See cases	GUncertain significance
Select item 253751	GRCh37/hg19 2p11.2(chr2:86269067-86509326)x3	REEP1, MRPL35 +3 more	Copy number gain	See cases	GUncertain significance
Select item 154917	GRCh38/hg38 2p11.2(chr2:86062007-86282203)x4	IMMT, LOC112841602 +19 more	Copy number gain	See cases	GLikely benign
Select item 153632	GRCh38/hg38 2p11.2(chr2:85014686-88826619)x1	ATOH8, C2orf68 +179 more	Copy number loss	See cases	GPathogenic
Select item 152995	GRCh38/hg38 2p25.1-11.2(chr2:7495123-87705899)x3	HAAO, HADHA +2457 more	Copy number gain	See cases	GBenign
Select item 150348	GRCh38/hg38 2p11.2(chr2:86062007-86282203)x3	IMMT, LOC112841602 +19 more	Copy number gain	See cases	GUncertain significance
Select item 146038	GRCh38/hg38 2p11.2(chr2:86078247-86282144)x3	IMMT, LOC112841602 +17 more	Copy number gain	See cases	GUncertain significance
Select item 145403	GRCh38/hg38 2p12-11.2(chr2:77025216-90282666)x3	ATOH8, C2orf68 +302 more	Copy number gain	See cases	GPathogenic
Select item 58876	GRCh38/hg38 2p11.2(chr2:86073968-86251223)x3	IMMT, LOC112841602 +17 more	Copy number gain	See cases	GUncertain significance
Select item 58875	GRCh38/hg38 2p11.2(chr2:86026429-86242094)x4	IMMT, LOC106783498 +22 more	Copy number gain	See cases	GUncertain significance

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Links from Gene

Items: 46