23581[geneid] - ClinVar

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Items: 76

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 147284	GRCh38/hg38 19p13.13-13.12(chr19:13533925-15371089)x1	ADGRE2, ADGRE3 +180 more	Copy number loss	See cases	GPathogenic
Select item 59114	GRCh38/hg38 19p13.12-q11(chr19:13974677-27839676)x3	ABHD8, ADGRE2 +695 more	Copy number gain	See cases	GPathogenic
Select item 144765	GRCh38/hg38 19p13.12-13.11(chr19:14154962-16914313)x1	ADGRE2, ADGRE3 +237 more	Copy number loss	See cases	GPathogenic
Select item 147745	GRCh38/hg38 19p13.12(chr19:14406909-15410770)x1	LOC130063788, LOC130063789 +77 more	Copy number loss	See cases	GUncertain significance
Select item 144311	GRCh38/hg38 19p13.12(chr19:14477761-15133653)x3	ADGRE2, ADGRE3 +41 more	Copy number gain	See cases	GUncertain significance
Select item 2499635	GRCh38/hg38 19p13.12-13.11(chr19:15014099-16261691)	AKAP8, AKAP8L +105 more	Copy number loss	Chromosome 19p13.13 deletion syndrome	GPathogenic
Select item 1287531	NM_012114.3(CASP14):c.-46-262C>T	CASP14	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1247864	NM_012114.3(CASP14):c.-46-259A>G	CASP14	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1238465	NM_012114.3(CASP14):c.-46-101T>A	CASP14	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3045450	NM_012114.3(CASP14):c.-10C>T	CASP14	Single nucleotide variant (5 prime UTR variant)	CASP14-related disorder	GLikely benign
Select item 3351073	NM_012114.3(CASP14):c.-3G>A	CASP14	Single nucleotide variant (5 prime UTR variant)	CASP14-related disorder	GLikely benign
Select item 3137577	NM_012114.3(CASP14):c.14G>A (p.Arg5Gln)	CASP14 (R5Q)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 1228577	NM_012114.3(CASP14):c.28-271T>G	CASP14	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1251768	NM_012114.3(CASP14):c.28-173T>C	CASP14	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3137582	NM_012114.3(CASP14):c.52C>T (p.Arg18Cys)	CASP14 (R18C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3137583	NM_012114.3(CASP14):c.53G>A (p.Arg18His)	CASP14 (R18H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 777293	NM_012114.3(CASP14):c.69G>A (p.Leu23=)	CASP14	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3137588	NM_012114.3(CASP14):c.86G>A (p.Arg29Gln)	CASP14 (R29Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2391198	NM_012114.3(CASP14):c.106C>G (p.Leu36Val)	CASP14 (L36V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2365127	NM_012114.3(CASP14):c.110A>G (p.Asp37Gly)	CASP14 (D37G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3043803	NM_012114.3(CASP14):c.130C>T (p.Arg44Trp)	CASP14 (R44W)	Single nucleotide variant (missense variant)	CASP14-related disorder	GBenign
Select item 3137578	NM_012114.3(CASP14):c.161G>C (p.Arg54Thr)	CASP14 (R54T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 770655	NM_012114.3(CASP14):c.174C>T (p.Ala58=)	CASP14	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 713661	NM_012114.3(CASP14):c.177G>A (p.Glu59=)	CASP14	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 781880	NM_012114.3(CASP14):c.193C>G (p.Leu65Val)	CASP14 (L65V)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2406588	NM_012114.3(CASP14):c.224G>C (p.Arg75Pro)	CASP14 (R75P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3040425	NM_012114.3(CASP14):c.225G>C (p.Arg75=)	CASP14	Single nucleotide variant (synonymous variant)	CASP14-related disorder	GBenign
Select item 2610852	NM_012114.3(CASP14):c.263C>A (p.Ala88Asp)	CASP14 (A88D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3263421	NM_012114.3(CASP14):c.272G>C (p.Arg91Thr)	CASP14 (R91T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1027761	NM_012114.3(CASP14):c.328G>A (p.Glu110Lys)	CASP14 (E110K)	Single nucleotide variant (missense variant)	Ichthyosis, congenital, autosomal recessive 12	GUncertain significance
Select item 1027762	NM_012114.3(CASP14):c.332C>T (p.Ala111Val)	CASP14 (A111V)	Single nucleotide variant (missense variant)	Ichthyosis, congenital, autosomal recessive 12	GUncertain significance
Select item 2501195	NM_012114.3(CASP14):c.361C>T (p.Arg121Ter)	CASP14 (R121*)	Single nucleotide variant (nonsense)	not specified	GUncertain significance
Select item 3137579	NM_012114.3(CASP14):c.362G>A (p.Arg121Gln)	CASP14 (R121Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2357268	NM_012114.3(CASP14):c.383T>A (p.Ile128Asn)	CASP14 (I128N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1723314	NM_012114.3(CASP14):c.397C>T (p.Arg133Ter)	CASP14 (R133*)	Single nucleotide variant (nonsense)	not specified	GUncertain significance
Select item 1253688	NM_012114.3(CASP14):c.404-271T>C	CASP14	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1286125	NM_012114.3(CASP14):c.404-151A>C	CASP14	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2355872	NM_012114.3(CASP14):c.410G>T (p.Arg137Met)	CASP14 (R137M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1343636	NM_012114.3(CASP14):c.449T>A (p.Met150Lys)	CASP14 (M150K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 375306	NM_012114.3(CASP14):c.462_463del (p.Asp154fs)	CASP14 (D154fs)	Deletion (frameshift variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 2531077	NM_012114.3(CASP14):c.475A>G (p.Ile159Val)	CASP14 (I159V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3137580	NM_012114.3(CASP14):c.502G>A (p.Val168Ile)	CASP14 (V168I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2388008	NM_012114.3(CASP14):c.514G>A (p.Val172Ile)	CASP14 (V172I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1235544	NM_012114.3(CASP14):c.520+77T>C	CASP14	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 738069	NM_012114.3(CASP14):c.522A>G (p.Gly174=)	CASP14	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3137581	NM_012114.3(CASP14):c.529G>A (p.Ala177Thr)	CASP14 (A177T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 736941	NM_012114.3(CASP14):c.536G>A (p.Arg179Gln)	CASP14 (R179Q)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 725352	NM_012114.3(CASP14):c.570C>A (p.Thr190=)	CASP14	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2474859	NM_012114.3(CASP14):c.571C>G (p.Leu191Val)	CASP14 (L191V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3137584	NM_012114.3(CASP14):c.577G>A (p.Asp193Asn)	CASP14 (D193N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1258242	NM_012114.3(CASP14):c.624+224G>C	CASP14	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1229485	NM_012114.3(CASP14):c.625-118A>G	CASP14	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1282674	NM_012114.3(CASP14):c.625-34G>T	CASP14	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3137585	NM_012114.3(CASP14):c.631C>T (p.Arg211Trp)	CASP14 (R211W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3137586	NM_012114.3(CASP14):c.652C>G (p.Leu218Val)	CASP14 (L218V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3137587	NM_012114.3(CASP14):c.680C>T (p.Thr227Met)	CASP14 (T227M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2299396	NM_012114.3(CASP14):c.707G>A (p.Arg236Gln)	CASP14 (R236Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3263425	NM_012114.3(CASP14):c.713G>C (p.Arg238Pro)	CASP14 (R238P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3263420	NM_012114.3(CASP14):c.713G>A (p.Arg238Gln)	CASP14 (R238Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1677238	NM_012114.3(CASP14):c.719A>T (p.Tyr240Phe)	CASP14 (Y240F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1343637	NM_012114.3(CASP14):c.729G>A (p.Ter243=)	CASP14	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 1290269	NM_012114.3(CASP14):c.*97C>T	CASP14	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
Select item 1258783	NM_012114.3(CASP14):c.*188A>G	CASP14	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
Select item 1283613	NM_012114.3(CASP14):c.*228G>T	CASP14	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
Select item 1221344	NM_012114.3(CASP14):c.*247T>C	CASP14	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
Select item 3062393	GRCh37/hg19 19p13.13-13.11(chr19:13970692-18139376)x3	CYP4F8, DCAF15 +109 more	Copy number gain	not specified	GUncertain significance
Select item 2684887	GRCh37/hg19 19p13.12-13.11(chr19:14888106-17360864)x3	ADGRE2, AKAP8 +55 more	Copy number gain	not provided	GUncertain significance
Select item 2429233	NC_000019.9:g.(?_15160290)_(15164770_15165968)del	CASP14	Deletion	not specified	GUncertain significance
Select item 2425869	NC_000019.9:g.(?_14847048)_(17394124_?)del	ADGRE2, AKAP8 +57 more	Deletion	not provided	GUncertain significance
Select item 1526656	GRCh37/hg19 19p13.12-13.11(chr19:14124666-16431349)	ADGRE2, ADGRE3 +55 more	Copy number loss	not specified	GPathogenic
Select item 980194	GRCh37/hg19 19p13.12-12(chr19:14286624-20956753)x3	BST2, NWD1 +158 more	Copy number gain	not provided	GPathogenic
Select item 816068	GRCh37/hg19 19p13.12(chr19:14368330-15712368)x1	ADGRE2, ADGRE3 +30 more	Copy number loss	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 442476	GRCh37/hg19 19p13.12-13.11(chr19:14883158-16788770)x1	ADGRE2, AKAP8 +45 more	Copy number loss	See cases	GPathogenic

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Items: 76