PTCD2[gene] - ClinVar

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Items: 32

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 800723	GRCh38/hg38 5q11.2-13.2(chr5:58785203-73519962)x1	LINC02219, LINC02229 +265 more	Copy number loss	Intellectual disability	GLikely pathogenic
Select item 3024351	GRCh38/hg38 5q13.2(chr5:71378409-72329454)	BDP1, CARTPT +20 more	Copy number gain	Autism spectrum disorder	GUncertain significance
Select item 153044	GRCh38/hg38 5q13.2(chr5:71915937-72562961)x3	LOC102503427, LOC113002591 +18 more	Copy number gain	See cases	GUncertain significance
Select item 3220581	NM_024754.5(PTCD2):c.32G>T (p.Arg11Leu)	LOC129994026, PTCD2 (R11L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2371813	NM_024754.5(PTCD2):c.35C>G (p.Pro12Arg)	LOC129994026, PTCD2 (P12R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2306304	NM_024754.5(PTCD2):c.65A>C (p.Gln22Pro)	LOC129994026, PTCD2 (Q22P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2394651	NM_024754.5(PTCD2):c.101C>T (p.Ser34Phe)	LOC129994026, PTCD2 (S34F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2333491	NM_024754.5(PTCD2):c.137A>T (p.Tyr46Phe)	PTCD2 (Y46F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3220579	NM_024754.5(PTCD2):c.244A>G (p.Lys82Glu)	PTCD2 (K82E)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GLikely benign
Select item 2491763	NM_024754.5(PTCD2):c.276G>C (p.Lys92Asn)	PTCD2 (K92N)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 3220580	NM_024754.5(PTCD2):c.313C>T (p.Arg105Trp)	PTCD2 (R105W)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2209408	NM_024754.5(PTCD2):c.401C>T (p.Pro134Leu)	PTCD2 (P134L)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2258238	NM_024754.5(PTCD2):c.433C>G (p.Leu145Val)	PTCD2 (L145V)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 3220582	NM_024754.5(PTCD2):c.573G>T (p.Met191Ile)	PTCD2 (M19I +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2607469	NM_024754.5(PTCD2):c.631T>C (p.Tyr211His)	PTCD2 (Y39H +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2496278	NM_024754.5(PTCD2):c.715A>G (p.Arg239Gly)	PTCD2 (R130G +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2351517	NM_024754.5(PTCD2):c.716G>C (p.Arg239Thr)	PTCD2 (R67T +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3220583	NM_024754.5(PTCD2):c.772G>A (p.Val258Met)	PTCD2 (V258M +3 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2509984	NM_024754.5(PTCD2):c.814T>G (p.Cys272Gly)	PTCD2 (C163G +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2373035	NM_024754.5(PTCD2):c.854T>A (p.Met285Lys)	PTCD2 (M113K +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2297484	NM_024754.5(PTCD2):c.922C>T (p.His308Tyr)	PTCD2 (H118Y +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2363198	NM_024754.5(PTCD2):c.974T>C (p.Val325Ala)	PTCD2 (V135A +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3220578	NM_024754.5(PTCD2):c.1013C>T (p.Thr338Ile)	PTCD2 (T148I +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2613099	NM_024754.5(PTCD2):c.1057G>C (p.Val353Leu)	PTCD2 (V244L +3 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2516014	NM_024754.5(PTCD2):c.1100T>C (p.Leu367Pro)	PTCD2 (L177P +3 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 979681	GRCh37/hg19 5q13.2(chr5:71017577-72056514)x1	MRPS27, PTCD2 +2 more	Copy number loss	not provided	GUncertain significance
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 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

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Items: 32