58508[geneid] - 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 147505	GRCh38/hg38 7q36.1-36.3(chr7:151104277-159325876)x3	ABCF2, ABCF2-H2BK1 +315 more	Copy number gain	See cases	GPathogenic
Select item 145486	GRCh38/hg38 7q36.1-36.2(chr7:151214163-153187462)x1	ABCF2, ABCF2-H2BK1 +98 more	Copy number loss	See cases	GPathogenic
Select item 146896	GRCh38/hg38 7q36.1-36.3(chr7:151378879-158923762)x1	LOC129389944, LOC129389945 +271 more	Copy number loss	See cases	GPathogenic
Select item 154377	GRCh38/hg38 7q36.1-36.2(chr7:151424353-153358923)x1	ACTR3B, CRYGN +77 more	Copy number loss	See cases	GUncertain significance
Select item 155553	GRCh38/hg38 7q36.1(chr7:151843296-152652302)x3	GALNT11, GALNTL5 +30 more	Copy number gain	See cases	GLikely benign
Select item 154286	GRCh38/hg38 7q36.1(chr7:152019464-152555911)x3	GALNT11, GALNTL5 +18 more	Copy number gain	See cases	GUncertain significance
Select item 145890	GRCh38/hg38 7q36.1(chr7:152019833-152239007)x3	GALNT11, GALNTL5 +6 more	Copy number gain	See cases	GLikely benign
Select item 1342507	NC_000007.14:g.152052676_152295696del	GALNT11, KMT2C +4 more	Deletion	Kleefstra syndrome 2	GPathogenic
Select item 149977	GRCh38/hg38 7q36.1(chr7:152056713-152636746)x3	GALNT11, KMT2C +15 more	Copy number gain	See cases	GUncertain significance
Select item 152090	GRCh38/hg38 7q36.1(chr7:152107145-152507995)x3	GALNT11, KMT2C +15 more	Copy number gain	See cases	GLikely benign
Select item 152094	GRCh38/hg38 7q36.1(chr7:152134952-152295367)x3	KMT2C, LOC123956272 +2 more	Copy number gain	See cases	GLikely benign
Select item 2430043	NM_170606.3(KMT2C):c.14707G>T (p.Ala4903Ser)	KMT2C (A4903S)	Single nucleotide variant (missense variant)	Autism spectrum disorder	GLikely benign
Select item 3373233	NM_170606.3(KMT2C):c.14677G>C (p.Asp4893His)	KMT2C (D4893H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 872355	NM_170606.3(KMT2C):c.14669T>A (p.Phe4890Tyr)	KMT2C (F4890Y)	Single nucleotide variant (missense variant)	Kleefstra syndrome 2 +1 more	GUncertain significance
Select item 3011549	NM_170606.3(KMT2C):c.14659A>C (p.Lys4887Gln)	KMT2C (K4887Q)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 1306759	NM_170606.3(KMT2C):c.14651A>G (p.Tyr4884Cys)	KMT2C (Y4884C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2193125	NM_170606.3(KMT2C):c.14644-8G>A	KMT2C	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2898459	NM_170606.3(KMT2C):c.14644-10C>T	KMT2C	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1498934	NM_170606.3(KMT2C):c.14579T>C (p.Val4860Ala)	KMT2C (V4860A)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2824185	NM_170606.3(KMT2C):c.14570C>T (p.Ala4857Val)	KMT2C (A4857V)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 1569606	NM_170606.3(KMT2C):c.14565T>C (p.Cys4855=)	KMT2C	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1310711	NM_170606.3(KMT2C):c.14560A>G (p.Asn4854Asp)	KMT2C (N4854D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1704687	NM_170606.3(KMT2C):c.14552G>A (p.Cys4851Tyr)	KMT2C (C4851Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1639812	NM_170606.3(KMT2C):c.14550G>A (p.Ser4850=)	KMT2C	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2635223	NM_170606.3(KMT2C):c.14543A>G (p.Asn4848Ser)	KMT2C (N4848S)	Single nucleotide variant (missense variant)	KMT2C-related disorder	GUncertain significance
Select item 2661909	NM_170606.3(KMT2C):c.14537A>G (p.Tyr4846Cys)	KMT2C (Y4846C)	Single nucleotide variant (missense variant)	Kleefstra syndrome 2	GUncertain significance
Select item 2993823	NM_170606.3(KMT2C):c.14535-4G>A	KMT2C	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1600332	NM_170606.3(KMT2C):c.14535-11G>A	KMT2C	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1988743	NM_170606.3(KMT2C):c.14534+17C>T	KMT2C	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3233864	NM_170606.3(KMT2C):c.14534+15A>T	KMT2C	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 2062788	NM_170606.3(KMT2C):c.14534+14G>C	KMT2C	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2062791	NM_170606.3(KMT2C):c.14534+11G>T	KMT2C	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1569665	NM_170606.3(KMT2C):c.14534+7C>T	KMT2C	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3257047	NM_170606.3(KMT2C):c.14529C>T (p.Pro4843=)	KMT2C	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3236535	NM_170606.3(KMT2C):c.14526dup (p.Pro4843fs)	KMT2C (P4843fs)	Duplication (frameshift variant)	KMT2C-related NDD	GPathogenic
Select item 1917168	NM_170606.3(KMT2C):c.14508C>T (p.Asp4836=)	KMT2C	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3236523	NM_170606.3(KMT2C):c.14501T>C (p.Val4834Ala)	KMT2C (V4834A)	Single nucleotide variant (missense variant)	KMT2C-related NDD	GUncertain significance
Select item 1964118	NM_170606.3(KMT2C):c.14494G>A (p.Asp4832Asn)	KMT2C (D4832N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 423282	NM_170606.3(KMT2C):c.14483G>A (p.Arg4828His)	KMT2C (R4828H)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2154042	NM_170606.3(KMT2C):c.14465G>A (p.Arg4822His)	KMT2C (R4822H)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 1633117	NM_170606.3(KMT2C):c.14463C>T (p.Asn4821=)	KMT2C	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3236509	NM_170606.3(KMT2C):c.14458C>T (p.Gln4820Ter)	KMT2C (Q4820*)	Single nucleotide variant (nonsense)	KMT2C-related NDD	GLikely pathogenic
Select item 3366546	NM_170606.3(KMT2C):c.14423A>C (p.Glu4808Ala)	KMT2C (E4808A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1313160	NM_170606.3(KMT2C):c.14422G>A (p.Glu4808Lys)	KMT2C (E4808K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2063679	NM_170606.3(KMT2C):c.14421C>T (p.Asn4807=)	KMT2C	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1308387	NM_170606.3(KMT2C):c.14413A>G (p.Ile4805Val)	KMT2C (I4805V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1985981	NM_170606.3(KMT2C):c.14410A>G (p.Ile4804Val)	KMT2C (I4804V)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely benign
Select item 1302428	NM_170606.3(KMT2C):c.14404G>A (p.Gly4802Arg)	KMT2C (G4802R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1914093	NM_170606.3(KMT2C):c.14403C>A (p.Ile4801=)	KMT2C	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1709318	NM_170606.3(KMT2C):c.14376G>C (p.Glu4792Asp)	KMT2C (E4792D)	Single nucleotide variant (missense variant)	Kleefstra syndrome 2	GUncertain significance
Select item 372947	NM_170606.3(KMT2C):c.14344-1G>A	KMT2C	Single nucleotide variant (splice acceptor variant)	KMT2C-related NDD +1 more	GPathogenic/Likely pathogenic
Select item 1660883	NM_170606.3(KMT2C):c.14344-4_14344-3del	KMT2C	Deletion (intron variant)	not provided	GBenign
Select item 1570937	NM_170606.3(KMT2C):c.14344-3T>A	KMT2C	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2971614	NM_170606.3(KMT2C):c.14344-9T>G	KMT2C	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1651875	NM_170606.3(KMT2C):c.14344-16_14344-15inv	KMT2C	Inversion (intron variant)	not provided	GLikely benign
Select item 1902011	NM_170606.3(KMT2C):c.14344-19T>C	KMT2C	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1900750	NM_170606.3(KMT2C):c.14343+15T>C	KMT2C	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2637510	NM_170606.3(KMT2C):c.14343+9A>G	KMT2C	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 2433223	NM_170606.3(KMT2C):c.14343+3G>A	KMT2C	Single nucleotide variant (intron variant)	Kleefstra syndrome 2	GUncertain significance
Select item 3236510	NM_170606.3(KMT2C):c.14335C>G (p.Arg4779Gly)	KMT2C (R4779G)	Single nucleotide variant (missense variant)	KMT2C-related NDD	GLikely pathogenic
Select item 3003702	NM_170606.3(KMT2C):c.14330G>A (p.Arg4777Gln)	KMT2C (R4777Q)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2665086	NM_170606.3(KMT2C):c.14329C>T (p.Arg4777Trp)	KMT2C (R4777W)	Single nucleotide variant (missense variant)	Kleefstra syndrome 2	GUncertain significance
Select item 2069831	NM_170606.3(KMT2C):c.14322T>C (p.Tyr4774=)	KMT2C	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2433220	NM_170606.3(KMT2C):c.14320T>C (p.Tyr4774His)	KMT2C (Y4774H)	Single nucleotide variant (missense variant)	Kleefstra syndrome 2	GUncertain significance
Select item 3116016	NM_170606.3(KMT2C):c.14318del (p.Val4773fs)	KMT2C (V4773fs)	Deletion (frameshift variant)	Inborn genetic diseases	GPathogenic
Select item 1619816	NM_170606.3(KMT2C):c.14310A>G (p.Lys4770=)	KMT2C	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1349763	NM_170606.3(KMT2C):c.14288G>A (p.Arg4763Gln)	KMT2C (R4763Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance

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