34397[HGNC] - ClinVar

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Items: 33

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 151339	GRCh38/hg38 15q15.1(chr15:41697762-42489559)x3	CAPN3, EHD4 +44 more	Copy number gain	See cases	GUncertain significance
Select item 3050244	NM_001114632.2(JMJD7):c.-5C>A	JMJD7, JMJD7-PLA2G4B +1 more	Single nucleotide variant (5 prime UTR variant)	JMJD7-related disorder	GLikely benign
Select item 3056209	NM_001114632.2(JMJD7):c.20A>G (p.Glu7Gly)	JMJD7, JMJD7-PLA2G4B +1 more (E7G)	Single nucleotide variant (missense variant)	JMJD7-PLA2G4B-related disorder	GBenign
Select item 3112404	NM_001114632.2(JMJD7):c.34G>C (p.Glu12Gln)	JMJD7, JMJD7-PLA2G4B +1 more (E12Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 731633	NM_001114632.2(JMJD7):c.50C>T (p.Pro17Leu)	JMJD7, JMJD7-PLA2G4B +1 more (P17L)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2342031	NM_001114632.2(JMJD7):c.66G>T (p.Glu22Asp)	JMJD7, JMJD7-PLA2G4B (E22D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 711107	NM_001114632.2(JMJD7):c.83C>G (p.Ala28Gly)	JMJD7, JMJD7-PLA2G4B (A28G)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 3034479	NM_001114632.2(JMJD7):c.153G>A (p.Pro51=)	JMJD7, JMJD7-PLA2G4B	Single nucleotide variant (synonymous variant)	JMJD7-related disorder	GBenign
Select item 2374400	NM_001114632.2(JMJD7):c.253G>A (p.Val85Met)	JMJD7, JMJD7-PLA2G4B (V85M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3047744	NM_001114632.2(JMJD7):c.273G>A (p.Ala91=)	JMJD7, JMJD7-PLA2G4B	Single nucleotide variant (synonymous variant)	JMJD7-related disorder	GLikely benign
Select item 2315298	NM_001114632.2(JMJD7):c.292C>T (p.Arg98Cys)	JMJD7, JMJD7-PLA2G4B (R98C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3035070	NM_001114632.2(JMJD7):c.343G>A (p.Val115Met)	JMJD7, JMJD7-PLA2G4B (V115M)	Single nucleotide variant (missense variant)	JMJD7-related disorder	GLikely benign
Select item 3057053	NM_001114632.2(JMJD7):c.444C>T (p.Ser148=)	JMJD7, JMJD7-PLA2G4B	Single nucleotide variant (synonymous variant)	JMJD7-PLA2G4B-related disorder	GLikely benign
Select item 787425	NM_001114632.2(JMJD7):c.471G>T (p.Leu157=)	JMJD7, JMJD7-PLA2G4B	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2260629	NM_001114632.2(JMJD7):c.738C>G (p.Asp246Glu)	JMJD7, JMJD7-PLA2G4B (D246E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3055559	NM_001114632.2(JMJD7):c.779G>A (p.Arg260His)	JMJD7, JMJD7-PLA2G4B (R260H)	Single nucleotide variant (missense variant +1 more)	JMJD7-related disorder	GLikely benign
Select item 3287207	NM_001114632.2(JMJD7):c.805C>G (p.Leu269Val)	JMJD7, JMJD7-PLA2G4B (L269V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2294729	NM_001114632.2(JMJD7):c.829C>T (p.His277Tyr)	JMJD7, JMJD7-PLA2G4B (H277Y)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3287206	NM_001114632.2(JMJD7):c.904T>A (p.Tyr302Asn)	JMJD7, JMJD7-PLA2G4B (Y302N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2525960	NM_001114632.2(JMJD7):c.919G>T (p.Asp307Tyr)	JMJD7, JMJD7-PLA2G4B (D307Y)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2311110	NM_001114632.2(JMJD7):c.925C>G (p.Leu309Val)	JMJD7, JMJD7-PLA2G4B (L309V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3046306	NM_001114632.2(JMJD7):c.*6C>T	JMJD7, JMJD7-PLA2G4B	Single nucleotide variant (3 prime UTR variant +1 more)	JMJD7-PLA2G4B-related disorder	GLikely benign
Select item 3063379	GRCh37/hg19 15q11.2-21.2(chr15:22770421-50347130)x3	ACTC1, ADAL +200 more	Copy number gain	not specified	GPathogenic
Select item 2671612	Single allele	ADAL, AFG2B +103 more	Deletion	not provided	GPathogenic
Select item 1024934	NC_000015.9:g.(?_32964879)_(91358519_?)dup	B2M, CTXN2 +472 more	Duplication	Bloom syndrome +1 more	GUncertain significance
Select item 980031	GRCh37/hg19 15q15.1(chr15:41869275-42484890)x3	MGA, PLA2G4F +9 more	Copy number gain	not provided	GLikely benign
Select item 564195	GRCh37/hg19 15q15.1(chr15:42079854-42426833)x3	SPTBN5, PLA2G4E +5 more	Copy number gain	not provided	GUncertain significance
Select item 560049	Single allele	PDIA3, PEAK1 +521 more	Duplication	not provided	GPathogenic
Select item 442893	GRCh37/hg19 15q11.2-26.3(chr15:22770422-102429112)x3	AAGAB, ABHD17C +559 more	Copy number gain	See cases	GPathogenic
Select item 442892	GRCh37/hg19 15q11.2-26.3(chr15:22770422-102429112)	NOX5, NPAP1 +559 more	Copy number gain	See cases	GPathogenic
Select item 395389	GRCh37/hg19 15q15.1-21.2(chr15:41689327-52446981)x1	ADAL, AFG2B +107 more	Copy number loss	See cases	GPathogenic
Select item 395145	GRCh37/hg19 15q11.2-26.3(chr15:20733395-102511616)x4	CHRFAM7A, CHRM5 +566 more	Copy number gain	See cases	GPathogenic
Select item 394887	GRCh37/hg19 15q15.1-26.3(chr15:41745084-102354798)x4	ALDH1A2, ALDH1A3 +444 more	Copy number gain	See cases	GPathogenic

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Items: 33