101[HGNC] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 146075	GRCh38/hg38 7p22.3-q36.3(chr7:54185-159282390)x1	CUL1, CUX1 +4737 more	Copy number loss	See cases	GPathogenic
Select item 147547	GRCh38/hg38 7q21.3-36.3(chr7:97419852-158923762)x3	LOC123956257, LOC123956258 +2213 more	Copy number gain	See cases	GPathogenic
Select item 152912	GRCh38/hg38 7q31.2-36.3(chr7:115459015-159325817)x3	AASS, ABCB8 +1547 more	Copy number gain	See cases	GPathogenic
Select item 149905	GRCh38/hg38 7q31.32-36.3(chr7:121863759-159335865)x3	AASS, ABCB8 +1380 more	Copy number gain	See cases	GPathogenic
Select item 57215	GRCh38/hg38 7q32.1-36.3(chr7:129310166-159282390)x3	ABCB8, ABCF2 +1176 more	Copy number gain	See cases	GPathogenic
Select item 155687	GRCh38/hg38 7q32.3-36.3(chr7:131171478-159327017)x3	PRKAG2, PRKAG2-AS1 +1052 more	Copy number gain	See cases	GPathogenic
Select item 154735	GRCh38/hg38 7q32.3-36.3(chr7:131228764-159335866)x3	LOC129389895, LOC129389896 +1046 more	Copy number gain	See cases	GPathogenic
Select item 155640	GRCh38/hg38 7q32.3-36.3(chr7:132438072-159327017)x3	TRBV27, TRBV28 +1025 more	Copy number gain	See cases	GPathogenic
Select item 150858	GRCh38/hg38 7q32.3-36.3(chr7:132444095-159335866)x3	OR2A2, OR2A25 +1025 more	Copy number gain	See cases	GPathogenic
Select item 57401	GRCh38/hg38 7q32.3-36.3(chr7:132850196-159325876)x3	TRC-GCA9-3, TRC-GCA9-4 +1019 more	Copy number gain	See cases	GPathogenic
Select item 149061	GRCh38/hg38 7q33-36.3(chr7:134666829-158591882)x1	LOC129999635, LOC129999636 +944 more	Copy number loss	See cases	GPathogenic
Select item 59716	GRCh38/hg38 7q33-36.3(chr7:136309982-159307523)x3	ABCB8, ABCF2 +908 more	Copy number gain	See cases	GPathogenic
Select item 2579170	GRCh38/hg38 7q33-36.3(chr7:137463392-159345973)x3	EPHA1-AS1, EPHB6 +888 more	Copy number gain	Neurodevelopmental disorder	GPathogenic
Select item 147398	GRCh38/hg38 7q33-36.2(chr7:137751200-154815582)x3	ABCB8, ABCF2 +692 more	Copy number gain	See cases	GPathogenic
Select item 2579171	GRCh38/hg38 7q34-36.3(chr7:138620939-159233475)x3	LOC129999716, LOC129999717 +847 more	Copy number gain	Neurodevelopmental disorder	GLikely pathogenic
Select item 60300	GRCh38/hg38 7q34-36.3(chr7:140754198-159307523)x1	ABCB8, ABCF2 +737 more	Copy number loss	See cases	GPathogenic
Select item 148181	GRCh38/hg38 7q34-36.3(chr7:141960861-159335866)x1	LOC129999721, LOC129999722 +707 more	Copy number loss	See cases	GPathogenic
Select item 60302	GRCh38/hg38 7q35-36.3(chr7:143884559-159282390)x1	LOC129999681, LOC129999682 +573 more	Copy number loss	See cases	GPathogenic
Select item 57118	GRCh38/hg38 7q35-36.1(chr7:143884559-152674271)x1	ABCB8, ABCF2 +358 more	Copy number loss	See cases	GPathogenic
Select item 148943	GRCh38/hg38 7q35-36.3(chr7:145250254-159335866)x1	ABCB8, ABCF2 +540 more	Copy number loss	See cases	GPathogenic
Select item 148263	GRCh38/hg38 7q35-36.3(chr7:145436544-159331441)x1	LOC129999684, LOC129999685 +538 more	Copy number loss	See cases	GLikely pathogenic
Select item 60312	GRCh38/hg38 7q35-36.3(chr7:145699944-159296617)x1	LOC129999655, LOC129999656 +533 more	Copy number loss	See cases	GPathogenic
Select item 148715	GRCh38/hg38 7q35-36.3(chr7:146047157-157522158)x1	ABCB8, ABCF2 +473 more	Copy number loss	See cases	GPathogenic
Select item 155436	GRCh38/hg38 7q35-36.3(chr7:147144002-159327017)x1	UBE3C, VIPR2 +526 more	Copy number loss	See cases	GPathogenic
Select item 57408	GRCh38/hg38 7q35-36.3(chr7:147250465-159325876)x1	ABCB8, ABCF2 +526 more	Copy number loss	See cases	GPathogenic
Select item 146558	GRCh38/hg38 7q35-36.2(chr7:147345844-153833351)x3	ABCB8, ABCF2 +329 more	Copy number gain	See cases	GPathogenic
Select item 60313	GRCh38/hg38 7q36.1(chr7:148256584-152332535)x1	ABCB8, ABCF2 +293 more	Copy number loss	See cases	GPathogenic
Select item 149569	GRCh38/hg38 7q36.1-36.2(chr7:150113232-154162779)x3	ABCB8, ABCF2 +212 more	Copy number gain	See cases	GLikely pathogenic
Select item 154525	GRCh38/hg38 7q36.1-36.3(chr7:150260297-159325876)x1	ABCB8, ABCF2 +407 more	Copy number loss	See cases	GPathogenic
Select item 150864	GRCh38/hg38 7q36.1-36.2(chr7:150275734-153342804)x3	ABCB8, ABCF2 +205 more	Copy number gain	See cases	GUncertain significance
Select item 57001	GRCh38/hg38 7q36.1(chr7:150319864-152674271)x1	ABCB8, ABCF2 +191 more	Copy number loss	See cases	GPathogenic
Select item 146852	GRCh38/hg38 7q36.1-36.3(chr7:150486071-159335865)x1	ABCB8, ABCF2 +375 more	Copy number loss	See cases	GPathogenic
Select item 148391	GRCh38/hg38 7q36.1-36.3(chr7:150802801-159335866)x1	ABCB8, ABCF2 +351 more	Copy number loss	See cases	GPathogenic
Select item 2596251	NM_004769.4(ASIC3):c.25G>A (p.Glu9Lys)	ASIC3 (E9K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2261220	NM_004769.4(ASIC3):c.35G>A (p.Arg12Gln)	ASIC3 (R12Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3130369	NM_004769.4(ASIC3):c.44C>T (p.Ser15Leu)	ASIC3 (S15L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2215477	NM_004769.4(ASIC3):c.53G>A (p.Arg18His)	ASIC3 (R18H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2518211	NM_004769.4(ASIC3):c.55G>A (p.Val19Met)	ASIC3 (V19M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2537503	NM_004769.4(ASIC3):c.73T>C (p.Ser25Pro)	ASIC3 (S25P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2478222	NM_004769.4(ASIC3):c.74C>T (p.Ser25Leu)	ASIC3 (S25L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3130376	NM_004769.4(ASIC3):c.94G>A (p.Val32Ile)	ASIC3 (V32I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2218724	NM_004769.4(ASIC3):c.122G>A (p.Arg41His)	ASIC3 (R41H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3130363	NM_004769.4(ASIC3):c.125G>C (p.Arg42Pro)	ASIC3 (R42P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2404735	NM_004769.4(ASIC3):c.132G>A (p.Met44Ile)	ASIC3 (M44I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2289160	NM_004769.4(ASIC3):c.137C>T (p.Ala46Val)	ASIC3 (A46V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3130367	NM_004769.4(ASIC3):c.193C>T (p.Arg65Cys)	ASIC3 (R65C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1703060	NM_004769.4(ASIC3):c.235C>T (p.Arg79Ter)	ASIC3 (R79*)	Single nucleotide variant (nonsense +1 more)	not provided	GUncertain significance
Select item 2398573	NM_004769.4(ASIC3):c.236G>A (p.Arg79Gln)	ASIC3 (R79Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2605939	NM_004769.4(ASIC3):c.260C>T (p.Pro87Leu)	ASIC3 (P87L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2234404	NM_004769.4(ASIC3):c.310C>T (p.Pro104Ser)	ASIC3 (P104S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2211741	NM_004769.4(ASIC3):c.358G>A (p.Ala120Thr)	ASIC3 (A120T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3130368	NM_004769.4(ASIC3):c.370G>A (p.Ala124Thr)	ASIC3 (A124T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3318117	NM_004769.4(ASIC3):c.380G>T (p.Arg127Leu)	ASIC3 (R127L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 739352	NM_004769.4(ASIC3):c.380G>A (p.Arg127His)	ASIC3 (R127H)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 2363950	NM_004769.4(ASIC3):c.388G>A (p.Gly130Ser)	ASIC3 (G130S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3318100	NM_004769.4(ASIC3):c.404C>T (p.Pro135Leu)	ASIC3 (P135L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2490122	NM_004769.4(ASIC3):c.409G>A (p.Gly137Ser)	ASIC3 (G137S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1703061	NM_004769.4(ASIC3):c.449_450del (p.Tyr150fs)	ASIC3 (Y150fs)	Deletion (frameshift variant +1 more)	not provided	GUncertain significance
Select item 2217229	NM_004769.4(ASIC3):c.454C>T (p.Arg152Cys)	ASIC3 (R152C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2454954	NM_004769.4(ASIC3):c.494G>A (p.Arg165His)	ASIC3 (R165H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2203944	NM_004769.4(ASIC3):c.499C>T (p.Arg167Cys)	ASIC3 (R167C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2521337	NM_004769.4(ASIC3):c.544C>T (p.Arg182Trp)	ASIC3 (R182W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3130371	NM_004769.4(ASIC3):c.578C>A (p.Ala193Asp)	ASIC3 (A193D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2487592	NM_004769.4(ASIC3):c.646G>A (p.Val216Met)	ASIC3 (V216M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2548690	NM_004769.4(ASIC3):c.650A>G (p.Gln217Arg)	ASIC3 (Q217R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2379779	NM_004769.4(ASIC3):c.695C>T (p.Pro232Leu)	ASIC3 (P232L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3130373	NM_004769.4(ASIC3):c.698T>C (p.Phe233Ser)	ASIC3 (F233S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2241597	NM_004769.4(ASIC3):c.712C>G (p.Arg238Gly)	ASIC3 (R238G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3130374	NM_004769.4(ASIC3):c.718C>G (p.Gln240Glu)	ASIC3 (Q240E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3130375	NM_004769.4(ASIC3):c.751G>A (p.Asp251Asn)	ASIC3 (D251N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2489422	NM_004769.4(ASIC3):c.752A>G (p.Asp251Gly)	ASIC3 (D251G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2598502	NM_004769.4(ASIC3):c.769G>T (p.Val257Leu)	ASIC3 (V257L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2524746	NM_004769.4(ASIC3):c.770T>C (p.Val257Ala)	ASIC3 (V257A)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2522307	NM_004769.4(ASIC3):c.803A>G (p.Gln268Arg)	ASIC3 (Q268R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 723952	NM_004769.4(ASIC3):c.814-5C>A	ASIC3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 749181	NM_004769.4(ASIC3):c.843T>C (p.Asp281=)	ASIC3	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 789519	NM_004769.4(ASIC3):c.865C>T (p.Pro289Ser)	ASIC3 (P289S)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 2600921	NM_004769.4(ASIC3):c.913A>G (p.Ser305Gly)	ASIC3 (S305G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2291667	NM_004769.4(ASIC3):c.973G>A (p.Ala325Thr)	ASIC3 (A325T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3130377	NM_004769.4(ASIC3):c.984C>G (p.Cys328Trp)	ASIC3 (C328W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2562032	NM_004769.4(ASIC3):c.1015G>A (p.Val339Met)	ASIC3 (V339M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2286666	NM_004769.4(ASIC3):c.1022T>C (p.Val341Ala)	ASIC3 (V341A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2262160	NM_004769.4(ASIC3):c.1035G>C (p.Gln345His)	ASIC3 (Q345H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2518154	NM_004769.4(ASIC3):c.1076T>C (p.Leu359Pro)	ASIC3, LOC129999616 (L359P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2540228	NM_004769.4(ASIC3):c.1082A>C (p.Lys361Thr)	ASIC3, LOC129999616 (K361T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3318089	NM_004769.4(ASIC3):c.1094C>T (p.Ala365Val)	ASIC3, LOC129999616 (A365V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3130361	NM_004769.4(ASIC3):c.1099C>T (p.Pro367Ser)	ASIC3, LOC129999616 (P367S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3318109	NM_004769.4(ASIC3):c.1114A>C (p.Ser372Arg)	ASIC3, LOC129999616 (S372R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3318136	NM_004769.4(ASIC3):c.1123T>C (p.Tyr375His)	ASIC3 (Y375H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3318127	NM_004769.4(ASIC3):c.1147C>T (p.Arg383Trp)	ASIC3 (R383W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2569813	NM_004769.4(ASIC3):c.1169C>T (p.Ala390Val)	ASIC3 (A390V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2211466	NM_004769.4(ASIC3):c.1171C>T (p.Arg391Cys)	ASIC3 (R391C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3130364	NM_004769.4(ASIC3):c.1313T>C (p.Ile438Thr)	ASIC3 (I438T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2512667	NM_004769.4(ASIC3):c.1483C>G (p.Arg495Gly)	ASIC3 (R495G)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2380672	NM_004769.4(ASIC3):c.1518-4G>A	ASIC3 (E512K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2240646	NM_004769.4(ASIC3):c.1529C>T (p.Pro510Leu)	ASIC3 (L517F +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2513663	NM_004769.4(ASIC3):c.1535G>T (p.Cys512Phe)	ASIC3 (C512F +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2394868	NM_004769.4(ASIC3):c.1539C>T (p.Ala513=)	ASIC3 (R494C +1 more)	Single nucleotide variant (synonymous variant +2 more)	not specified	GLikely benign
Select item 3130365	NM_004769.4(ASIC3):c.1543A>T (p.Thr515Ser)	ASIC3 (H495L +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GLikely benign
Select item 3130366	NM_004769.4(ASIC3):c.1568G>T (p.Arg523Leu)	ASIC3 (R523L +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance

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