25153[HGNC] - ClinVar

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Items: 40

	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 59114	GRCh38/hg38 19p13.12-q11(chr19:13974677-27839676)x3	ABHD8, ADGRE2 +695 more	Copy number gain	See cases	GPathogenic
Select item 147522	GRCh38/hg38 19p13.12-12(chr19:15133594-24193591)x3	ABHD8, AKAP8 +574 more	Copy number gain	See cases	GPathogenic
Select item 57042	GRCh38/hg38 19p13.11-q13.11(chr19:17176767-34924150)x3	LOC130064154, LOC130064155 +625 more	Copy number gain	See cases	GPathogenic
Select item 155504	GRCh38/hg38 19p13.11(chr19:17246895-17730147)x1	ABHD8, ANKLE1 +64 more	Copy number loss	See cases	GUncertain significance
Select item 153111	GRCh38/hg38 19p13.11(chr19:17308207-17705382)x1	ANO8, BISPR +46 more	Copy number loss	See cases	GUncertain significance
Select item 523645	NM_001304547.2(MVB12A):c.-406-53_-406-52insAGTCTGGGGGCGGGGCCTG	BISPR, BST2 +2 more	Insertion (intron variant)	Human immunodeficiency virus type 1, rapid progression to AIDS	Gassociation
Select item 2271698	NM_138401.4(MVB12A):c.41G>A (p.Gly14Asp)	LOC130063939, MVB12A (G14D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2604785	NM_138401.4(MVB12A):c.86G>A (p.Ser29Asn)	LOC130063939, MVB12A (S29N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2386381	NM_138401.4(MVB12A):c.88G>C (p.Ala30Pro)	LOC130063939, MVB12A (A30P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3151427	NM_138401.4(MVB12A):c.97T>G (p.Cys33Gly)	LOC130063939, MVB12A (C33G)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3151376	NM_138401.4(MVB12A):c.122G>A (p.Ser41Asn)	LOC130063939, MVB12A (S41N)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2376544	NM_138401.4(MVB12A):c.140C>T (p.Ala47Val)	LOC130063939, MVB12A (A47V)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3151385	NM_138401.4(MVB12A):c.185T>G (p.Leu62Arg)	MVB12A (L62R)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2243941	NM_138401.4(MVB12A):c.222G>C (p.Gln74His)	MVB12A (Q74H)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2619194	NM_138401.4(MVB12A):c.277A>G (p.Met93Val)	MVB12A (M93V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2374737	NM_138401.4(MVB12A):c.350C>T (p.Thr117Met)	MVB12A (T117M +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2405295	NM_138401.4(MVB12A):c.367C>T (p.Arg123Trp)	MVB12A (R123W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2307854	NM_138401.4(MVB12A):c.377G>A (p.Gly126Glu)	MVB12A (G126E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3151394	NM_138401.4(MVB12A):c.419T>C (p.Met140Thr)	MVB12A (M48T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2619668	NM_138401.4(MVB12A):c.467T>G (p.Val156Gly)	MVB12A (V156G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2253763	NM_138401.4(MVB12A):c.479G>A (p.Arg160Gln)	MVB12A (R160Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2515571	NM_138401.4(MVB12A):c.498G>T (p.Met166Ile)	MVB12A (M74I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2348091	NM_138401.4(MVB12A):c.503G>T (p.Gly168Val)	MVB12A (G76V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2260863	NM_138401.4(MVB12A):c.530C>T (p.Pro177Leu)	MVB12A (P177L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3151407	NM_138401.4(MVB12A):c.541G>A (p.Gly181Ser)	MVB12A (G89S +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2480253	NM_138401.4(MVB12A):c.598A>T (p.Asn200Tyr)	MVB12A (N108Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2459791	NM_138401.4(MVB12A):c.674G>A (p.Arg225Gln)	MVB12A (R133Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2262353	NM_138401.4(MVB12A):c.751G>A (p.Glu251Lys)	MVB12A (E159K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2343156	NM_138401.4(MVB12A):c.775G>A (p.Val259Met)	MVB12A (V167M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2343737	NM_138401.4(MVB12A):c.808C>G (p.Pro270Ala)	MVB12A (P270A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 980194	GRCh37/hg19 19p13.12-12(chr19:14286624-20956753)x3	BST2, NWD1 +158 more	Copy number gain	not provided	GPathogenic
Select item 560145	Single allele	ABHD8, ANKLE1 +16 more	Duplication	not provided	GUncertain significance
Select item 443499	GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)	BICRA, BLOC1S3 +1364 more	Copy number gain	See cases	GPathogenic
Select item 443498	GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)x3	A1BG, ABCA7 +1364 more	Copy number gain	See cases	GPathogenic
Select item 441789	GRCh37/hg19 19p13.11(chr19:17325373-17840956)x1	ABHD8, ANKLE1 +21 more	Copy number loss	See cases	GUncertain significance
Select item 424641	GRCh37/hg19 19p13.12-13.11(chr19:15970389-17893528)x1	HSH2D, KLF2 +46 more	Copy number loss	not provided	GPathogenic
Select item 253947	GRCh37/hg19 19p13.11(chr19:17514059-17899363)x3	NIBAN3, PGLS-DT +10 more	Copy number gain	See cases	GUncertain significance
Select item 253857	GRCh37/hg19 19p13.11(chr19:17001280-17536087)x3	ABHD8, ANKLE1 +16 more	Copy number gain	See cases	GUncertain significance

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Items: 40