16244[HGNC] - ClinVar

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Items: 64

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 146596	GRCh38/hg38 20p13-q13.33(chr20:99557-64277321)x3	JPH2, KAT14 +2522 more	Copy number gain	See cases	GPathogenic
Select item 59218	GRCh38/hg38 20q13.12-13.33(chr20:44787704-64277321)x3	ABHD16B, ACOT8 +1024 more	Copy number gain	See cases	GPathogenic
Select item 3235944	GRCh38/hg38 20q13.13-13.33(chr20:50805746-64334135)	ABHD16B, ADNP +635 more	Copy number gain	20q13.13qter duplication	GPathogenic
Select item 155517	GRCh38/hg38 20q13.2-13.33(chr20:53236165-64284202)x3	LOC130066385, LOC130066386 +553 more	Copy number gain	See cases	GLikely pathogenic
Select item 146317	GRCh38/hg38 20q13.2-13.33(chr20:55630597-60941207)x3	LOC121627913, LOC121853014 +175 more	Copy number gain	See cases	GLikely pathogenic
Select item 148973	GRCh38/hg38 20q13.2-13.33(chr20:56198032-64277321)x3	LOC130066289, LOC130066290 +491 more	Copy number gain	See cases	GPathogenic
Select item 152840	GRCh38/hg38 20q13.31-13.33(chr20:57229415-64273089)x3	LOC130066383, LOC130066384 +464 more	Copy number gain	See cases	GPathogenic
Select item 153145	GRCh38/hg38 20q13.32(chr20:58630473-58881669)x3	GNAS, GNAS-AS1 +16 more	Copy number gain	See cases	GUncertain significance
Select item 2652433	NM_001204872.2(NPEPL1):c.-41-261G>A	NPEPL1, STX16-NPEPL1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 3300767	NM_024663.4(NPEPL1):c.13G>T (p.Gly5Trp)	STX16-NPEPL1, NPEPL1 (G5W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2382853	NM_024663.4(NPEPL1):c.34G>A (p.Ala12Thr)	NPEPL1, STX16-NPEPL1 (A12T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2298181	NM_024663.4(NPEPL1):c.59G>C (p.Arg20Pro)	LOC130066260, NPEPL1 +1 more (R20P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3201614	NM_024663.4(NPEPL1):c.83T>C (p.Leu28Pro)	LOC130066260, NPEPL1 +1 more (L28P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2345591	NM_024663.4(NPEPL1):c.112C>T (p.His38Tyr)	LOC130066260, NPEPL1 +1 more (H38Y)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3201605	NM_024663.4(NPEPL1):c.136C>T (p.Arg46Trp)	LOC130066260, NPEPL1 +1 more (R46W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3201607	NM_024663.4(NPEPL1):c.148G>A (p.Glu50Lys)	LOC130066260, NPEPL1 +1 more (E50K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2303040	NM_024663.4(NPEPL1):c.169A>G (p.Ser57Gly)	NPEPL1, STX16-NPEPL1 (S9G +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3201608	NM_024663.4(NPEPL1):c.258C>G (p.His86Gln)	NPEPL1, STX16-NPEPL1 (H86Q +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2208928	NM_024663.4(NPEPL1):c.274G>A (p.Ala92Thr)	NPEPL1, STX16-NPEPL1 (A44T +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3201609	NM_024663.4(NPEPL1):c.334G>A (p.Val112Met)	NPEPL1, STX16-NPEPL1 (V84M +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2461854	NM_024663.4(NPEPL1):c.335T>C (p.Val112Ala)	NPEPL1, STX16-NPEPL1 (V84A +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2299884	NM_024663.4(NPEPL1):c.386G>A (p.Arg129Gln)	NPEPL1, STX16-NPEPL1 (R129Q +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2514899	NM_024663.4(NPEPL1):c.424C>T (p.Arg142Trp)	NPEPL1, STX16-NPEPL1 (R142W +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3300761	NM_024663.4(NPEPL1):c.427C>T (p.Arg143Cys)	NPEPL1, STX16-NPEPL1 (R115C +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2208059	NM_024663.4(NPEPL1):c.479A>G (p.Asn160Ser)	NPEPL1, STX16-NPEPL1 (N160S +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2271603	NM_024663.4(NPEPL1):c.529G>A (p.Gly177Ser)	NPEPL1, STX16-NPEPL1 (G177S +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2396132	NM_024663.4(NPEPL1):c.532G>A (p.Val178Met)	NPEPL1, STX16-NPEPL1 (V130M +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2210311	NM_024663.4(NPEPL1):c.536G>A (p.Arg179Gln)	NPEPL1, STX16-NPEPL1 (R131Q +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3201610	NM_024663.4(NPEPL1):c.553G>A (p.Val185Met)	NPEPL1, STX16-NPEPL1 (V185M +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2601853	NM_024663.4(NPEPL1):c.569A>G (p.Asn190Ser)	NPEPL1, STX16-NPEPL1 (N162S +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2239019	NM_024663.4(NPEPL1):c.571G>A (p.Glu191Lys)	STX16-NPEPL1, NPEPL1 (E163K +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3201611	NM_024663.4(NPEPL1):c.583G>A (p.Asp195Asn)	NPEPL1, STX16-NPEPL1 (D167N +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3300766	NM_024663.4(NPEPL1):c.595G>A (p.Glu199Lys)	NPEPL1, STX16-NPEPL1 (E199K +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2355039	NM_024663.4(NPEPL1):c.626G>A (p.Gly209Glu)	NPEPL1, STX16-NPEPL1 (G181E +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3201612	NM_024663.4(NPEPL1):c.665C>T (p.Thr222Met)	NPEPL1, STX16-NPEPL1 (T174M +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3201613	NM_024663.4(NPEPL1):c.703G>A (p.Ala235Thr)	NPEPL1, STX16-NPEPL1 (A235T +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2542445	NM_024663.4(NPEPL1):c.767C>G (p.Ala256Gly)	NPEPL1, STX16-NPEPL1 (A256G +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2312740	NM_024663.4(NPEPL1):c.868G>A (p.Val290Ile)	NPEPL1, STX16-NPEPL1 (V242I +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GLikely benign
Select item 2265439	NM_024663.4(NPEPL1):c.895A>G (p.Lys299Glu)	NPEPL1, STX16-NPEPL1 (K251E +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3300762	NM_024663.4(NPEPL1):c.1022C>T (p.Thr341Met)	NPEPL1, STX16-NPEPL1 (T341M +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2271198	NM_024663.4(NPEPL1):c.1057G>A (p.Val353Met)	NPEPL1, STX16-NPEPL1 (V305M +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2292563	NM_024663.4(NPEPL1):c.1087G>A (p.Asp363Asn)	NPEPL1, STX16-NPEPL1 (D363N +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2313330	NM_024663.4(NPEPL1):c.1121C>T (p.Ala374Val)	NPEPL1, STX16-NPEPL1 (A346V +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2514453	NM_024663.4(NPEPL1):c.1136C>T (p.Thr379Ile)	NPEPL1, STX16-NPEPL1 (T379I +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2404222	NM_024663.4(NPEPL1):c.1154C>T (p.Ala385Val)	NPEPL1, STX16-NPEPL1 (A337V +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3300769	NM_024663.4(NPEPL1):c.1222G>A (p.Val408Met)	NPEPL1, STX16-NPEPL1 (V408M +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3300765	NM_024663.4(NPEPL1):c.1307G>A (p.Arg436Gln)	NPEPL1, STX16-NPEPL1 (R436Q +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2536552	NM_024663.4(NPEPL1):c.1310A>T (p.Asp437Val)	NPEPL1, STX16-NPEPL1 (D389V +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3300763	NM_024663.4(NPEPL1):c.1357G>A (p.Gly453Ser)	NPEPL1, STX16-NPEPL1 (G405S +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2619197	NM_024663.4(NPEPL1):c.1435G>T (p.Gly479Cys)	NPEPL1, STX16-NPEPL1 (G479C +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3201606	NM_024663.4(NPEPL1):c.1461C>A (p.Phe487Leu)	NPEPL1, STX16-NPEPL1 (F459L +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3300764	NM_024663.4(NPEPL1):c.1546G>A (p.Asp516Asn)	NPEPL1, STX16-NPEPL1 (D468N +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3248275	NC_000020.10:g.(?_56993257)_(57967907_?)dup	APCDD1L, ATP5F1E +14 more	Duplication	Amyotrophic lateral sclerosis type 8 +1 more	GUncertain significance
Select item 2580344	GRCh37/hg19 20q13.2-13.33(chr20:52773668-62965020)x3	ABHD16B, ADRM1 +113 more	Copy number gain	See cases	GUncertain significance
Select item 1526694	GRCh37/hg19 20q13.32-13.33(chr20:56835739-62915555)	LAMA5, LIME1 +88 more	Copy number gain	not specified	GPathogenic
Select item 1526693	GRCh37/hg19 20q13.31-13.32(chr20:55292205-57866365)	ANKRD60, APCDD1L +25 more	Copy number loss	not specified	GPathogenic
Select item 1374167	NC_000020.10:g.(?_54823900)_(57899514_?)del	ANKRD60, APCDD1L +36 more	Deletion	not provided	GUncertain significance
Select item 1180535	GRCh37/hg19 20q13.2-13.33(chr20:51799648-62916626)x3	GATA5, ZBTB46 +116 more	Copy number gain	not provided	GPathogenic
Select item 816132	GRCh37/hg19 20q13.32-13.33(chr20:56788101-62762405)x3	BHLHE23, ZGPAT +87 more	Copy number gain	not provided	GPathogenic
Select item 816131	GRCh37/hg19 20q13.31-13.33(chr20:55743522-62032989)x3	CDH4, CHRNA4 +68 more	Copy number gain	not provided	GPathogenic
Select item 625661	GRCh37/hg19 20q13.2-13.33(chr20:54143747-62194881)	ADRM1, ANKRD60 +86 more	Copy number gain	not provided	GPathogenic
Select item 443340	GRCh37/hg19 20p13-q13.33(chr20:61569-62915555)x3	AAR2, ABHD12 +540 more	Copy number gain	See cases	GPathogenic
Select item 443339	GRCh37/hg19 20p13-q13.33(chr20:61569-62915555)	AAR2, ABHD12 +540 more	Copy number gain	See cases	GPathogenic
Select item 441724	GRCh37/hg19 20q13.2-13.33(chr20:51542616-62915555)x3	ABHD16B, ADRM1 +116 more	Copy number gain	See cases	GLikely pathogenic

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Items: 64