ClinVar for Gene (Select 79041) - ClinVar

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Links from Gene

Items: 34

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3327085	NM_024074.4(TMEM38A):c.118G>C (p.Glu40Gln)	TMEM38A (E40Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3327084	NM_024074.4(TMEM38A):c.814G>A (p.Gly272Arg)	TMEM38A (G272R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3327083	NM_024074.4(TMEM38A):c.485T>C (p.Met162Thr)	TMEM38A (M162T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3179445	NM_024074.4(TMEM38A):c.506T>C (p.Leu169Pro)	TMEM38A (L169P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3179444	NM_024074.4(TMEM38A):c.355G>A (p.Val119Met)	TMEM38A (V119M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3179443	NM_024074.4(TMEM38A):c.249C>G (p.Asn83Lys)	TMEM38A (N83K)	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 2684887	GRCh37/hg19 19p13.12-13.11(chr19:14888106-17360864)x3	ADGRE2, AKAP8 +55 more	Copy number gain	not provided	GUncertain significance
Select item 2608308	NM_024074.4(TMEM38A):c.55G>T (p.Val19Leu)	TMEM38A (V19L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2490907	NM_024074.4(TMEM38A):c.704C>A (p.Ser235Tyr)	TMEM38A (S235Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2471888	NM_024074.4(TMEM38A):c.560C>T (p.Thr187Ile)	TMEM38A (T187I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2457589	NM_024074.4(TMEM38A):c.707C>G (p.Pro236Arg)	TMEM38A (P236R)	Single nucleotide variant (missense variant)	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 2376153	NM_024074.4(TMEM38A):c.146G>A (p.Arg49His)	TMEM38A (R49H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2356823	NM_024074.4(TMEM38A):c.802G>A (p.Gly268Ser)	TMEM38A (G268S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2344342	NM_024074.4(TMEM38A):c.94G>C (p.Val32Leu)	TMEM38A (V32L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2336790	NM_024074.4(TMEM38A):c.893C>T (p.Ala298Val)	TMEM38A (A298V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2326627	NM_024074.4(TMEM38A):c.733T>C (p.Cys245Arg)	TMEM38A (C245R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2319052	NM_024074.4(TMEM38A):c.537G>C (p.Glu179Asp)	TMEM38A (E179D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2267618	NM_024074.4(TMEM38A):c.478G>T (p.Ala160Ser)	TMEM38A (A160S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2242275	NM_024074.4(TMEM38A):c.697C>A (p.His233Asn)	TMEM38A (H233N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2208721	NM_024074.4(TMEM38A):c.142C>T (p.Arg48Trp)	TMEM38A (R48W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2206393	NM_024074.4(TMEM38A):c.382C>T (p.Arg128Cys)	TMEM38A (R128C)	Single nucleotide variant (missense variant)	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 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 442665	GRCh37/hg19 19p13.12-13.11(chr19:15921132-17479860)x1	ANO8, ABHD8 +35 more	Copy number loss	See cases	GLikely pathogenic
Select item 442476	GRCh37/hg19 19p13.12-13.11(chr19:14883158-16788770)x1	ADGRE2, AKAP8 +45 more	Copy number loss	See cases	GPathogenic
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 147522	GRCh38/hg38 19p13.12-12(chr19:15133594-24193591)x3	ABHD8, AKAP8 +574 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 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 58339	GRCh38/hg38 19p13.11(chr19:16485144-16672218)x1	C19orf44, CALR3 +24 more	Copy number loss	See cases	GUncertain significance

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Links from Gene

Items: 34