843[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 57301	GRCh38/hg38 2q31.1-33.2(chr2:174898848-203941548)x1	LOC129935164, LOC129935165 +697 more	Copy number loss	See cases	GPathogenic
Select item 58770	GRCh38/hg38 2q31.1-33.1(chr2:176304445-202039790)x1	LOC126806416, LOC126806417 +591 more	Copy number loss	See cases	GPathogenic
Select item 150620	GRCh38/hg38 2q31.3-36.2(chr2:180513793-224302848)x3	INPP1, ITGA4 +1097 more	Copy number gain	See cases	GPathogenic
Select item 59158	GRCh38/hg38 2q32.2-37.3(chr2:188818195-242065208)x3	LOC129935343, LOC129935344 +1703 more	Copy number gain	See cases	GPathogenic
Select item 154206	GRCh38/hg38 2q32.2-37.3(chr2:189436149-241841232)x3	AAMP, ABCA12 +1687 more	Copy number gain	See cases	GPathogenic
Select item 59159	GRCh38/hg38 2q32.2-37.3(chr2:190310736-241892770)x3	LOC129935726, LOC129935727 +1665 more	Copy number gain	See cases	GPathogenic
Select item 152738	GRCh38/hg38 2q32.3-35(chr2:192938826-215705052)x1	ABCA12, ABI2 +509 more	Copy number loss	See cases	GPathogenic
Select item 57419	GRCh38/hg38 2q32.3-37.3(chr2:194898783-236473913)x3	LOC129935713, LOC129935714 +1299 more	Copy number gain	See cases	GPathogenic
Select item 146015	GRCh38/hg38 2q32.3-33.2(chr2:195660594-203969488)x1	ABI2, ALS2 +279 more	Copy number loss	See cases	GPathogenic
Select item 146362	GRCh38/hg38 2q33.1(chr2:197400023-202089348)x1	ALS2, AOX1 +145 more	Copy number loss	See cases	GLikely pathogenic
Select item 147402	GRCh38/hg38 2q33.1(chr2:198767347-202353840)x1	ALS2, AOX1 +117 more	Copy number loss	See cases	GPathogenic
Select item 155234	GRCh38/hg38 2q33.1-34(chr2:199937273-210031924)x1	ABI2, ADAM23 +298 more	Copy number loss	See cases	GPathogenic
Select item 152538	GRCh38/hg38 2q33.1-34(chr2:199946494-209985195)x1	ABI2, ADAM23 +293 more	Copy number loss	See cases	GPathogenic
Select item 333412	NM_032977.3(CASP10):c.-360T>C	CASP10	Single nucleotide variant	Autoimmune lymphoproliferative syndrome type 2A	GBenign
Select item 896762	NM_032977.3(CASP10):c.-314G>A	CASP10	Single nucleotide variant	Autoimmune lymphoproliferative syndrome type 2A	GUncertain significance
Select item 333413	NM_032977.3(CASP10):c.-285C>T	CASP10	Single nucleotide variant	Autoimmune lymphoproliferative syndrome type 2A	GLikely benign
Select item 333414	NM_032977.3(CASP10):c.-206C>T	CASP10	Single nucleotide variant	Autoimmune lymphoproliferative syndrome type 2A +1 more	GBenign
Select item 801851	NM_032977.4(CASP10):c.-8+5G>A	CASP10	Single nucleotide variant (intron variant)	Autoimmune lymphoproliferative syndrome type 2A +1 more	GConflicting classifications of pathogenicity
Select item 1242631	NM_032977.4(CASP10):c.-8+92C>T	CASP10	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1706792	NM_032977.4(CASP10):c.-8+188C>T	CASP10	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1296629	NM_032977.4(CASP10):c.-7-341G>A	CASP10	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2572663	NM_032977.4(CASP10):c.11A>G (p.Gln4Arg)	CASP10 (Q4R)	Single nucleotide variant (missense variant)	Diffuse midline glioma, H3 K27-altered	GUncertain significance
Select item 2940567	NM_032977.4(CASP10):c.13G>A (p.Gly5Ser)	CASP10 (G5S)	Single nucleotide variant (missense variant)	Autoimmune lymphoproliferative syndrome type 2A	GUncertain significance
Select item 333415	NM_032977.4(CASP10):c.20A>G (p.His7Arg)	CASP10 (H7R)	Single nucleotide variant (missense variant)	Autoimmune lymphoproliferative syndrome type 2A +1 more	GConflicting classifications of pathogenicity
Select item 1419109	NM_032977.4(CASP10):c.29C>G (p.Ser10Cys)	CASP10 (S10C)	Single nucleotide variant (missense variant)	Autoimmune lymphoproliferative syndrome type 2A	GUncertain significance
Select item 2921866	NM_032977.4(CASP10):c.45C>T (p.Asn15=)	CASP10	Single nucleotide variant (synonymous variant)	Autoimmune lymphoproliferative syndrome type 2A	GLikely benign
Select item 2942438	NM_032977.4(CASP10):c.47G>A (p.Cys16Tyr)	CASP10 (C16Y)	Single nucleotide variant (missense variant)	Autoimmune lymphoproliferative syndrome type 2A +1 more	GUncertain significance
Select item 333416	NM_032977.4(CASP10):c.49A>G (p.Lys17Glu)	CASP10 (K17E)	Single nucleotide variant (missense variant)	Autoimmune lymphoproliferative syndrome type 2A	GConflicting classifications of pathogenicity
Select item 2941340	NM_032977.4(CASP10):c.57C>G (p.Ser19Arg)	CASP10 (S19R)	Single nucleotide variant (missense variant)	Autoimmune lymphoproliferative syndrome type 2A	GUncertain significance
Select item 1356222	NM_032977.4(CASP10):c.61C>T (p.Arg21Cys)	CASP10 (R21C)	Single nucleotide variant (missense variant)	Autoimmune lymphoproliferative syndrome type 2A	GUncertain significance
Select item 1011666	NM_032977.4(CASP10):c.62G>A (p.Arg21His)	CASP10 (R21H)	Single nucleotide variant (missense variant)	not specified +2 more	GUncertain significance
Select item 2933753	NM_032977.4(CASP10):c.76A>G (p.Ile26Val)	CASP10 (I26V)	Single nucleotide variant (missense variant)	Autoimmune lymphoproliferative syndrome type 2A	GUncertain significance
Select item 714082	NM_032977.4(CASP10):c.81T>C (p.Ile27=)	CASP10	Single nucleotide variant (synonymous variant)	Autoimmune lymphoproliferative syndrome type 2A	GConflicting classifications of pathogenicity
Select item 1499880	NM_032977.4(CASP10):c.82G>C (p.Asp28His)	CASP10 (D28H)	Single nucleotide variant (missense variant)	Autoimmune lymphoproliferative syndrome type 2A	GUncertain significance
Select item 2946642	NM_032977.4(CASP10):c.86C>A (p.Ser29Ter)	CASP10 (S29*)	Single nucleotide variant (nonsense)	Autoimmune lymphoproliferative syndrome type 2A	GUncertain significance
Select item 1410685	NM_032977.4(CASP10):c.89A>T (p.Asn30Ile)	CASP10 (N30I)	Single nucleotide variant (missense variant)	Autoimmune lymphoproliferative syndrome type 2A	GUncertain significance
Select item 1576845	NM_032977.4(CASP10):c.90C>T (p.Asn30=)	CASP10	Single nucleotide variant (synonymous variant)	Autoimmune lymphoproliferative syndrome type 2A	GLikely benign
Select item 1378449	NM_032977.4(CASP10):c.94G>A (p.Gly32Arg)	CASP10 (G32R)	Single nucleotide variant (missense variant)	Autoimmune lymphoproliferative syndrome type 2A	GUncertain significance
Select item 2921782	NM_032977.4(CASP10):c.103G>A (p.Asp35Asn)	CASP10 (D35N)	Single nucleotide variant (missense variant)	Autoimmune lymphoproliferative syndrome type 2A	GUncertain significance
Select item 764073	NM_032977.4(CASP10):c.117C>T (p.Leu39=)	CASP10	Single nucleotide variant (synonymous variant)	Autoimmune lymphoproliferative syndrome type 2A	GLikely benign
Select item 1653611	NM_032977.4(CASP10):c.126C>T (p.Leu42=)	CASP10	Single nucleotide variant (synonymous variant)	Autoimmune lymphoproliferative syndrome type 2A	GLikely benign
Select item 1370585	NM_032977.4(CASP10):c.130A>T (p.Ile44Leu)	CASP10 (I44L)	Single nucleotide variant (missense variant)	Autoimmune lymphoproliferative syndrome type 2A	GUncertain significance
Select item 2632986	NM_032977.4(CASP10):c.131T>C (p.Ile44Thr)	CASP10 (I44T)	Single nucleotide variant (missense variant)	CASP10-related disorder	GUncertain significance
Select item 2923809	NM_032977.4(CASP10):c.134G>A (p.Gly45Glu)	CASP10 (G45E)	Single nucleotide variant (missense variant)	Autoimmune lymphoproliferative syndrome type 2A	GUncertain significance
Select item 854034	NM_032977.4(CASP10):c.136T>G (p.Leu46Val)	CASP10 (L46V)	Single nucleotide variant (missense variant)	Autoimmune lymphoproliferative syndrome type 2A	GUncertain significance
Select item 839357	NM_032977.4(CASP10):c.142C>T (p.Pro48Ser)	CASP10 (P48S)	Single nucleotide variant (missense variant)	Autoimmune lymphoproliferative syndrome type 2A	GUncertain significance
Select item 1108753	NM_032977.4(CASP10):c.144C>T (p.Pro48=)	CASP10	Single nucleotide variant (synonymous variant)	Autoimmune lymphoproliferative syndrome type 2A	GLikely benign
Select item 936365	NM_032977.4(CASP10):c.146A>G (p.Asn49Ser)	CASP10 (N49S)	Single nucleotide variant (missense variant)	Autoimmune lymphoproliferative syndrome type 2A	GUncertain significance
Select item 2936078	NM_032977.4(CASP10):c.153G>A (p.Lys51=)	CASP10	Single nucleotide variant (synonymous variant)	Autoimmune lymphoproliferative syndrome type 2A	GLikely benign
Select item 1353823	NM_032977.4(CASP10):c.163T>C (p.Ser55Pro)	CASP10 (S55P)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 757061	NM_032977.4(CASP10):c.174C>A (p.Ala58=)	CASP10	Single nucleotide variant (synonymous variant)	Autoimmune lymphoproliferative syndrome type 2A	GLikely benign
Select item 333417	NM_032977.4(CASP10):c.174C>T (p.Ala58=)	CASP10	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 592057	NM_032977.4(CASP10):c.176_177delinsGG (p.Ser59Trp)	CASP10 (S59W)	Indel (missense variant)	Autoimmune lymphoproliferative syndrome type 2A	GUncertain significance
Select item 333418	NM_032977.4(CASP10):c.177A>G (p.Ser59=)	CASP10	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign
Select item 644332	NM_032977.4(CASP10):c.199G>T (p.Ala67Ser)	CASP10 (A67S)	Single nucleotide variant (missense variant)	Autoimmune lymphoproliferative syndrome type 2A	GUncertain significance
Select item 838561	NM_032977.4(CASP10):c.208C>G (p.Leu70Val)	CASP10 (L70V)	Single nucleotide variant (missense variant)	Autoimmune lymphoproliferative syndrome type 2A	GUncertain significance
Select item 1998052	NM_032977.4(CASP10):c.211C>T (p.Leu71=)	CASP10	Single nucleotide variant (synonymous variant)	Autoimmune lymphoproliferative syndrome type 2A	GLikely benign
Select item 1345901	NM_032977.4(CASP10):c.215G>C (p.Ser72Thr)	CASP10 (S72T)	Single nucleotide variant (missense variant)	Autoimmune lymphoproliferative syndrome type 2A	GUncertain significance
Select item 2951142	NM_032977.4(CASP10):c.225C>T (p.Asp75=)	CASP10	Single nucleotide variant (synonymous variant)	Autoimmune lymphoproliferative syndrome type 2A	GLikely benign
Select item 577661	NM_032977.4(CASP10):c.226C>A (p.Pro76Thr)	CASP10 (P76T)	Single nucleotide variant (missense variant)	Autoimmune lymphoproliferative syndrome type 2A	GUncertain significance
Select item 1638647	NM_032977.4(CASP10):c.234C>T (p.Phe78=)	CASP10	Single nucleotide variant (synonymous variant)	Autoimmune lymphoproliferative syndrome type 2A	GLikely benign
Select item 1039059	NM_032977.4(CASP10):c.244CTC[1] (p.Leu83del)	CASP10 (L83del)	Microsatellite (inframe_deletion)	Autoimmune lymphoproliferative syndrome type 2A	GUncertain significance
Select item 2926700	NM_032977.4(CASP10):c.247C>T (p.Leu83Phe)	CASP10 (L83F)	Single nucleotide variant (missense variant)	Autoimmune lymphoproliferative syndrome type 2A	GUncertain significance
Select item 535759	NM_032977.4(CASP10):c.247C>G (p.Leu83Val)	CASP10 (L83V)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 2926874	NM_032977.4(CASP10):c.248T>C (p.Leu83Pro)	CASP10 (L83P)	Single nucleotide variant (missense variant)	Autoimmune lymphoproliferative syndrome type 2A	GUncertain significance
Select item 2130917	NM_032977.4(CASP10):c.249C>T (p.Leu83=)	CASP10	Single nucleotide variant (synonymous variant)	Autoimmune lymphoproliferative syndrome type 2A	GLikely benign
Select item 1365892	NM_032977.4(CASP10):c.250T>C (p.Tyr84His)	CASP10 (Y84H)	Single nucleotide variant (missense variant)	Autoimmune lymphoproliferative syndrome type 2A	GUncertain significance
Select item 1997473	NM_032977.4(CASP10):c.251A>G (p.Tyr84Cys)	CASP10 (Y84C)	Single nucleotide variant (missense variant)	Autoimmune lymphoproliferative syndrome type 2A	GUncertain significance
Select item 1014752	NM_032977.4(CASP10):c.258A>G (p.Ile86Met)	CASP10 (I86M)	Single nucleotide variant (missense variant)	Autoimmune lymphoproliferative syndrome type 2A	GUncertain significance
Select item 2378523	NM_032977.4(CASP10):c.259C>G (p.Arg87Gly)	CASP10 (R87G)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 569038	NM_032977.4(CASP10):c.259C>T (p.Arg87Trp)	CASP10 (R87W)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 1997153	NM_032977.4(CASP10):c.260G>A (p.Arg87Gln)	CASP10 (R87Q)	Single nucleotide variant (missense variant)	Autoimmune lymphoproliferative syndrome type 2A	GUncertain significance
Select item 2944963	NM_032977.4(CASP10):c.270G>A (p.Lys90=)	CASP10	Single nucleotide variant (synonymous variant)	Autoimmune lymphoproliferative syndrome type 2A	GLikely benign
Select item 1103035	NM_032977.4(CASP10):c.271C>T (p.Leu91=)	CASP10	Single nucleotide variant (synonymous variant)	Autoimmune lymphoproliferative syndrome type 2A	GLikely benign
Select item 2939561	NM_032977.4(CASP10):c.278A>C (p.Gln93Pro)	CASP10 (Q93P)	Single nucleotide variant (missense variant)	Autoimmune lymphoproliferative syndrome type 2A	GUncertain significance
Select item 1052960	NM_032977.4(CASP10):c.284T>C (p.Leu95Pro)	CASP10 (L95P)	Single nucleotide variant (missense variant)	Autoimmune lymphoproliferative syndrome type 2A	GUncertain significance
Select item 785750	NM_032977.4(CASP10):c.295A>G (p.Lys99Glu)	CASP10 (K99E)	Single nucleotide variant (missense variant)	Autoimmune lymphoproliferative syndrome type 2A	GLikely benign
Select item 1976325	NM_032977.4(CASP10):c.303A>T (p.Glu101Asp)	CASP10 (E101D)	Single nucleotide variant (missense variant)	Autoimmune lymphoproliferative syndrome type 2A	GUncertain significance
Select item 2135216	NM_032977.4(CASP10):c.309G>A (p.Glu103=)	CASP10	Single nucleotide variant (synonymous variant)	Autoimmune lymphoproliferative syndrome type 2A	GLikely benign
Select item 571302	NM_032977.4(CASP10):c.310C>T (p.Arg104Ter)	CASP10 (R104*)	Single nucleotide variant (nonsense)	Autoimmune lymphoproliferative syndrome type 2A	GUncertain significance
Select item 1057464	NM_032977.4(CASP10):c.311G>A (p.Arg104Gln)	CASP10 (R104Q)	Single nucleotide variant (missense variant)	Autoimmune lymphoproliferative syndrome type 2A +1 more	GUncertain significance
Select item 1976326	NM_032977.4(CASP10):c.314T>A (p.Leu105Gln)	CASP10 (L105Q)	Single nucleotide variant (missense variant)	Autoimmune lymphoproliferative syndrome type 2A	GUncertain significance
Select item 1436583	NM_032977.4(CASP10):c.314T>C (p.Leu105Pro)	CASP10 (L105P)	Single nucleotide variant (missense variant)	Autoimmune lymphoproliferative syndrome type 2A	GUncertain significance
Select item 801852	NM_032977.4(CASP10):c.325C>T (p.Arg109Ter)	CASP10 (R109*)	Single nucleotide variant (nonsense)	Autoimmune lymphoproliferative syndrome type 1 +1 more	GUncertain significance
Select item 2162939	NM_032977.4(CASP10):c.326G>C (p.Arg109Pro)	CASP10 (R109P)	Single nucleotide variant (missense variant)	Autoimmune lymphoproliferative syndrome type 2A	GUncertain significance
Select item 3256935	NM_032977.4(CASP10):c.334del (p.Val112fs)	CASP10 (V112fs)	Deletion (frameshift variant)	Susceptibility to severe COVID-19	GLikely pathogenic
Select item 1351812	NM_032977.4(CASP10):c.332G>C (p.Arg111Thr)	CASP10 (R111T)	Single nucleotide variant (missense variant)	Autoimmune lymphoproliferative syndrome type 2A	GUncertain significance
Select item 1386864	NM_032977.4(CASP10):c.335T>C (p.Val112Ala)	CASP10 (V112A)	Single nucleotide variant (missense variant)	Autoimmune lymphoproliferative syndrome type 2A +1 more	GUncertain significance
Select item 2546466	NM_032977.4(CASP10):c.341T>C (p.Leu114Pro)	CASP10 (L114P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1301792	NM_032977.4(CASP10):c.347+2T>G	CASP10	Single nucleotide variant (splice donor variant)	Autoimmune lymphoproliferative syndrome type 2A +1 more	GUncertain significance
Select item 2923490	NM_032977.4(CASP10):c.347+6G>A	CASP10	Single nucleotide variant (intron variant)	Autoimmune lymphoproliferative syndrome type 2A	GUncertain significance
Select item 333419	NM_032977.4(CASP10):c.347+8C>T	CASP10	Single nucleotide variant (intron variant)	Autoimmune lymphoproliferative syndrome type 2A +1 more	GBenign/Likely benign
Select item 1081682	NM_032977.4(CASP10):c.347+9G>A	CASP10	Single nucleotide variant (intron variant)	Autoimmune lymphoproliferative syndrome type 2A	GLikely benign
Select item 333420	NM_032977.4(CASP10):c.347+9G>T	CASP10	Single nucleotide variant (intron variant)	Autoimmune lymphoproliferative syndrome type 2A +1 more	GBenign
Select item 535762	NM_032977.4(CASP10):c.347+10G>T	CASP10	Single nucleotide variant (intron variant)	Autoimmune lymphoproliferative syndrome type 2A	GLikely benign
Select item 2117089	NM_032977.4(CASP10):c.347+11G>A	CASP10	Single nucleotide variant (intron variant)	Autoimmune lymphoproliferative syndrome type 2A	GLikely benign
Select item 2082117	NM_032977.4(CASP10):c.347+16T>C	CASP10	Single nucleotide variant (intron variant)	Autoimmune lymphoproliferative syndrome type 2A	GLikely benign
Select item 1292381	NM_032977.4(CASP10):c.348-139C>A	CASP10	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1624663	NM_032977.4(CASP10):c.348-16dup	CASP10	Duplication (intron variant)	Autoimmune lymphoproliferative syndrome type 2A	GBenign
Select item 2933385	NM_032977.4(CASP10):c.348-13G>C	CASP10	Single nucleotide variant (intron variant)	Autoimmune lymphoproliferative syndrome type 2A	GLikely benign

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