SPATA46[gene] - ClinVar

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Items: 27

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155448	GRCh38/hg38 1q21.2-25.2(chr1:149854269-180267197)x3	LOC129931453, LOC129931454 +1585 more	Copy number gain	See cases	GPathogenic
Select item 58109	GRCh38/hg38 1q23.1-25.1(chr1:157747246-176021247)x3	ADAMTS4, ADCY10 +775 more	Copy number gain	See cases	GPathogenic
Select item 57465	GRCh38/hg38 1q23.2-24.1(chr1:159479887-166895086)x1	ADAMTS4, ALDH9A1 +371 more	Copy number loss	See cases	GPathogenic
Select item 60042	GRCh38/hg38 1q23.3-25.1(chr1:161740907-173965154)x1	ADCY10, ALDH9A1 +406 more	Copy number loss	See cases	GPathogenic
Select item 60043	GRCh38/hg38 1q23.3-24.2(chr1:162040050-167480663)x1	LOC129931815, LOC129931816 +151 more	Copy number loss	See cases	GPathogenic
Select item 3168628	NM_182581.4(SPATA46):c.758T>C (p.Ile253Thr)	SPATA46 (I253T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3168626	NM_182581.4(SPATA46):c.475C>T (p.His159Tyr)	SPATA46 (H159Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3168625	NM_182581.4(SPATA46):c.419C>T (p.Ser140Leu)	SPATA46 (S140L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3168624	NM_182581.4(SPATA46):c.418T>G (p.Ser140Ala)	SPATA46 (S140A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3168623	NM_182581.4(SPATA46):c.322G>A (p.Glu108Lys)	SPATA46 (E108K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3168622	NM_182581.4(SPATA46):c.292C>T (p.Pro98Ser)	SPATA46 (P98S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3168621	NM_182581.4(SPATA46):c.277C>T (p.Arg93Trp)	SPATA46 (R93W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3168627	NM_182581.4(SPATA46):c.52G>A (p.Ala18Thr)	SPATA46 (A18T)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2685732	GRCh37/hg19 1q23.1-23.3(chr1:158001058-162858285)x1	ACKR1, ADAMTS4 +107 more	Copy number loss	not provided	GLikely pathogenic
Select item 1808712	GRCh37/hg19 1q23.3(chr1:161924068-164761399)x1	ATF6, C1orf226 +13 more	Copy number loss	not provided	GLikely pathogenic
Select item 1527348	GRCh37/hg19 1q23.3-24.3(chr1:162330810-171532331)	ADCY10, ALDH9A1 +62 more	Copy number loss	not specified	GPathogenic
Select item 1527326	GRCh37/hg19 1q23.2-24.1(chr1:160417296-166197042)	ADAMTS4, ALDH9A1 +62 more	Copy number loss	not specified	GPathogenic
Select item 1411942	NC_000001.10:g.(?_158581054)_(162750036_?)dup	LY9, MNDA +90 more	Duplication	Autoimmune interstitial lung disease-arthritis syndrome	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 688334	GRCh37/hg19 1q23.3(chr1:160744174-162583871)x3	ADAMTS4, APOA2 +42 more	Copy number gain	not provided	GUncertain significance
Select item 688082	GRCh37/hg19 1q23.1-24.2(chr1:157321299-167391423)x1	ACKR1, ADAMTS4 +132 more	Copy number loss	not provided	GPathogenic
Select item 625771	GRCh37/hg19 1q23.2-25.1(chr1:160369890-175796325)	ADCY10, ALDH9A1 +137 more	Copy number loss	not provided	GPathogenic
Select item 565194	GRCh37/hg19 1q23.3(chr1:162315980-162997340)x3	SH2D1B, UAP1 +7 more	Copy number gain	not provided	GUncertain significance
Select item 565192	GRCh37/hg19 1q23.3(chr1:161469309-162517412)x3	FCGR2B, C1orf226 +14 more	Copy number gain	not provided	GUncertain significance
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 395654	GRCh37/hg19 1q23.3-25.3(chr1:161676893-184071723)x1	SUCO, TADA1 +147 more	Copy number loss	See cases	GPathogenic

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Items: 27