ClinVar for Gene (Select 80006) - ClinVar

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Links from Gene

Items: 35

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3181984	NM_024941.4(TRAPPC13):c.746G>A (p.Arg249His)	TRAPPC13 (R86H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3181983	NM_024941.4(TRAPPC13):c.348T>A (p.Asn116Lys)	TRAPPC13 (N116K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3181981	NM_024941.4(TRAPPC13):c.1225G>C (p.Val409Leu)	TRAPPC13 (V404L +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3181980	NM_024941.4(TRAPPC13):c.1210G>A (p.Ala404Thr)	TRAPPC13 (A399T +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3148880	GRCh37/hg19 5q12.3-13.2(chr5:64364710-72835471)x1	ADAMTS6, CDK7 +40 more	Copy number loss	See cases	GPathogenic
Select item 3062872	GRCh37/hg19 5q12.3(chr5:64936781-65838741)x1	ERBIN, NLN +3 more	Copy number loss	not specified	GUncertain significance
Select item 3062840	GRCh37/hg19 5q12.3(chr5:64770345-64949871)x3	ADAMTS6, CENPK +3 more	Copy number gain	not specified	GUncertain significance
Select item 3024635	GRCh37/hg19 5q12.3-13.1(chr5:64111112-67101123)x1	ADAMTS6, CD180 +10 more	Copy number loss	not provided	GPathogenic
Select item 2671624	Single allele	ADAMTS6, CD180 +16 more	Deletion	not provided	GUncertain significance
Select item 2591405	NM_024941.4(TRAPPC13):c.157G>A (p.Val53Ile)	TRAPPC13 (V53I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2546850	NM_024941.4(TRAPPC13):c.1096T>C (p.Ser366Pro)	TRAPPC13 (S204P +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2402726	NM_024941.4(TRAPPC13):c.870G>T (p.Arg290Ser)	TRAPPC13 (R127S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2394962	NM_024941.4(TRAPPC13):c.616A>G (p.Met206Val)	TRAPPC13 (M200V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2368599	NM_024941.4(TRAPPC13):c.613C>A (p.Pro205Thr)	TRAPPC13 (P199T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2329520	NM_024941.4(TRAPPC13):c.180G>T (p.Met60Ile)	TRAPPC13 (M60I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2324288	NM_024941.4(TRAPPC13):c.347A>G (p.Asn116Ser)	TRAPPC13 (N116S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2316316	NM_024941.4(TRAPPC13):c.416T>C (p.Ile139Thr)	TRAPPC13 (I139T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2263465	NM_024941.4(TRAPPC13):c.256G>A (p.Val86Ile)	TRAPPC13 (V86I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2253340	NM_024941.4(TRAPPC13):c.971A>G (p.His324Arg)	TRAPPC13 (H324R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2222339	NM_024941.4(TRAPPC13):c.778G>A (p.Glu260Lys)	TRAPPC13 (E97K +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1527167	GRCh37/hg19 5q12.3-13.2(chr5:64049692-70306646)	ADAMTS6, CCDC125 +28 more	Copy number loss	not specified	GPathogenic
Select item 1456117	NC_000005.9:g.(?_63256278)_(65374358_?)del	ADAMTS6, CENPK +12 more	Deletion	not provided	GPathogenic
Select item 814692	GRCh37/hg19 5q12.3(chr5:64775928-64994289)x1	SGTB, CENPK +4 more	Copy number loss	not provided	GUncertain significance
Select item 800723	GRCh38/hg38 5q11.2-13.2(chr5:58785203-73519962)x1	LOC129993982, LOC129993983 +265 more	Copy number loss	Intellectual disability	GLikely pathogenic
Select item 635930	Single allele	C5orf24, C5orf34 +600 more	Deletion	Neurodevelopmental disorder	GUncertain significance
Select item 442431	GRCh37/hg19 5p15.1-q35.2(chr5:17628741-176575720)x1	DHFR, DHX29 +738 more	Copy number loss	See cases	GPathogenic
Select item 442344	GRCh37/hg19 5q12.1-13.2(chr5:58966132-68847066)x4	ADAMTS6, CCDC125 +39 more	Copy number gain	See cases	GLikely pathogenic
Select item 441920	GRCh37/hg19 5p15.33-q35.3(chr5:113577-180719789)	ABLIM3, ACOT12 +870 more	Copy number gain	See cases	GPathogenic
Select item 441919	GRCh37/hg19 5p15.33-q35.3(chr5:113577-180719789)x3	ABLIM3, ACOT12 +870 more	Copy number gain	See cases	GPathogenic
Select item 151651	GRCh38/hg38 5q12.3(chr5:65413763-66430722)x1	ADAMTS6, CENPK +28 more	Copy number loss	See cases	GLikely pathogenic
Select item 151037	GRCh38/hg38 5q12.3(chr5:65162063-65680676)x3	ADAMTS6, CENPK +8 more	Copy number gain	See cases	GLikely benign
Select item 149824	GRCh38/hg38 5p15.33-q13.3(chr5:22149-74412725)x3	ACTBL2, ADAMTS12 +1445 more	Copy number gain	See cases	GPathogenic
Select item 146452	GRCh38/hg38 5q12.3(chr5:65211728-66746761)x3	ADAMTS6, CENPK +41 more	Copy number gain	See cases	GUncertain significance
Select item 146335	GRCh38/hg38 5q12.1-13.2(chr5:63207112-71291191)x3	ADAMTS6, AK6 +139 more	Copy number gain	See cases	GLikely pathogenic
Select item 57512	GRCh38/hg38 5q12.3-13.2(chr5:64932763-69495504)x1	ADAMTS6, AK6 +115 more	Copy number loss	See cases	GPathogenic

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Links from Gene

Items: 35