ClinVar for Gene (Select 345222) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3296199	NM_001042690.2(MSANTD1):c.706G>A (p.Ala236Thr)	MSANTD1 (A236T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3296198	NM_001042690.2(MSANTD1):c.611C>T (p.Pro204Leu)	MSANTD1 (P191L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3296197	NM_001042690.2(MSANTD1):c.737G>A (p.Arg246His)	MSANTD1 (R246H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3296196	NM_001042690.2(MSANTD1):c.64G>A (p.Gly22Ser)	MSANTD1 (G22S +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3246741	NC_000004.11:g.(?_2357152)_(15176083_?)del	ABLIM2, ACOX3 +83 more	Deletion	not provided	GPathogenic
Select item 3246727	NC_000004.11:g.(?_1795662)_(3495228_?)del	ADD1, DOK7 +21 more	Deletion	not provided	GPathogenic
Select item 3246703	NC_000004.11:g.(?_1795662)_(3495228_?)dup	ADD1, DOK7 +21 more	Duplication	not provided	GUncertain significance
Select item 3246663	NC_000004.11:g.(?_2822345)_(3495228_?)del	ADD1, DOK7 +8 more	Deletion	Congenital myasthenic syndrome 10 +1 more	GPathogenic
Select item 3210940	NM_001042690.2(MSANTD1):c.97G>A (p.Val33Met)	MSANTD1 (V20M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3210931	NM_001042690.2(MSANTD1):c.7C>T (p.Arg3Cys)	MSANTD1 (R3C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3210911	NM_001042690.2(MSANTD1):c.549G>T (p.Glu183Asp)	MSANTD1 (E183D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3210902	NM_001042690.2(MSANTD1):c.541C>T (p.Arg181Cys)	MSANTD1 (R168C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3210896	NM_001042690.2(MSANTD1):c.524A>G (p.Gln175Arg)	MSANTD1 (Q162R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3210892	NM_001042690.2(MSANTD1):c.475T>C (p.Ser159Pro)	MSANTD1 (S146P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3210881	NM_001042690.2(MSANTD1):c.265C>T (p.Arg89Cys)	MSANTD1 (R76C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3062783	GRCh37/hg19 4p16.3-15.31(chr4:68345-19103550)x1	ABLIM2, ACOX3 +140 more	Copy number loss	not specified	GPathogenic
Select item 3062781	GRCh37/hg19 4p16.3-15.33(chr4:68345-14083766)x1	ABLIM2, ACOX3 +120 more	Copy number loss	not specified	GPathogenic
Select item 3062779	GRCh37/hg19 4p16.3-16.2(chr4:68345-4611819)x1	ADD1, ADRA2C +58 more	Copy number loss	not specified	GPathogenic
Select item 3062771	GRCh37/hg19 4p16.3-16.1(chr4:68345-7923907)x1	ADD1, ADRA2C +82 more	Copy number loss	not specified	GPathogenic
Select item 3062770	GRCh37/hg19 4p16.3(chr4:68345-3510024)x1	ADD1, ATP5ME +51 more	Copy number loss	not specified	GPathogenic
Select item 3062759	GRCh37/hg19 4p16.3-15.31(chr4:68345-21143236)x1	ABLIM2, ACOX3 +143 more	Copy number loss	not specified	GPathogenic
Select item 3062750	GRCh37/hg19 4p16.3-11(chr4:68345-49089361)x3	ABLIM2, ACOX3 +226 more	Copy number gain	not specified	GPathogenic
Select item 3024630	GRCh37/hg19 4p16.3-15.33(chr4:85622-13316942)x1	MSANTD1, MSX1 +117 more	Copy number loss	not provided	GPathogenic
Select item 2685952	GRCh37/hg19 4p16.3-16.1(chr4:68346-7171784)x3	ADD1, ADRA2C +79 more	Copy number gain	not provided	GPathogenic
Select item 2602422	NM_001042690.2(MSANTD1):c.57C>T (p.Gly19=)	MSANTD1	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 2583026	GRCh37/hg19 4p16.3-15.32(chr4:85622-16900108)x1	USP17L24, USP17L25 +132 more	Copy number loss	not provided	GPathogenic
Select item 2579174	GRCh38/hg38 4p16.3-q12(chr4:85624-57073230)x3	LOC129992561, LOC129992562 +1409 more	Copy number gain	Neurodevelopmental disorder	GPathogenic
Select item 2579173	GRCh38/hg38 4p16.3-13(chr4:2904667-42963232)x3	LOC129992261, LOC129992262 +962 more	Copy number gain	Neurodevelopmental disorder	GPathogenic
Select item 2579172	GRCh38/hg38 4p16.3-11(chr4:1-49062177)x3	LOC123477714, LOC123477715 +1267 more	Copy number gain	Neurodevelopmental disorder	GPathogenic
Select item 2574695	GRCh37/hg19 4p16.3-15.1(chr4:68345-34512694)	RNF212, RNF4 +162 more	Copy number gain	4p16.3 microduplication syndrome	GPathogenic
Select item 2568694	NM_001042690.2(MSANTD1):c.44C>G (p.Ser15Cys)	MSANTD1 (S15C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2559370	NM_001042690.2(MSANTD1):c.547G>A (p.Glu183Lys)	MSANTD1 (E170K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2539476	NM_001042690.2(MSANTD1):c.535G>A (p.Glu179Lys)	MSANTD1 (E166K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2524143	NM_001042690.2(MSANTD1):c.736C>T (p.Arg246Cys)	MSANTD1 (R246C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2516253	NM_001042690.2(MSANTD1):c.651G>T (p.Lys217Asn)	MSANTD1 (K217N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2516045	NM_001042690.2(MSANTD1):c.542G>A (p.Arg181His)	MSANTD1 (R168H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2516035	NM_001042690.2(MSANTD1):c.88G>A (p.Gly30Ser)	MSANTD1 (G17S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2514225	NM_001042690.2(MSANTD1):c.831C>A (p.Ser277Arg)	MSANTD1 (S277R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2470362	NM_001042690.2(MSANTD1):c.38C>T (p.Ala13Val)	MSANTD1 (A13V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2424606	NC_000004.11:g.(?_493125)_(3495228_?)dup	FGFRL1, GAK +46 more	Duplication	Fibrous dysplasia of jaw	GUncertain significance
Select item 2339958	NM_001042690.2(MSANTD1):c.16G>A (p.Gly6Arg)	MSANTD1 (G6R)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2309261	NM_001042690.2(MSANTD1):c.20C>A (p.Pro7Gln)	MSANTD1 (P7Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2293601	NM_001042690.2(MSANTD1):c.410A>G (p.Glu137Gly)	MSANTD1 (E124G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2219262	NM_001042690.2(MSANTD1):c.652A>C (p.Lys218Gln)	MSANTD1 (K218Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1808621	GRCh37/hg19 4p16.3-15.33(chr4:1-12785001)x1	ABLIM2, ACOX3 +117 more	Copy number loss	not provided	GPathogenic
Select item 1808552	GRCh37/hg19 4p16.3-15.33(chr4:68346-12369983)x1	ABLIM2, ACOX3 +117 more	Copy number loss	not provided	GPathogenic
Select item 1711164	GRCh37/hg19 4p16.3-11(chr4:68345-49089361)x3	ABLIM2, ACOX3 +226 more	Copy number gain	See cases	GPathogenic
Select item 1707444	GRCh37/hg19 4p16.3-15.31(chr4:68345-20964575)x1	ABLIM2, ACOX3 +143 more	Copy number loss	See cases	GPathogenic
Select item 1707423	GRCh37/hg19 4p16.3-16.2(chr4:68345-5579467)x1	ADD1, ADRA2C +63 more	Copy number loss	See cases	GPathogenic
Select item 1704651	GRCh37/hg19 4p16.3-12(chr4:114784-47569569)x3	ABLIM2, ACOX3 +212 more	Copy number gain	FETAL DEMISE	GPathogenic
Select item 1679802	Single allele	ADRA2C, BLOC1S4 +181 more	Deletion	not provided	GLikely pathogenic
Select item 1421534	NC_000004.11:g.(?_493125)_(3495228_?)del	ADD1, ATP5ME +46 more	Deletion	Fibrous dysplasia of jaw	GUncertain significance
Select item 1374044	NC_000004.11:g.(?_2822345)_(3495228_?)dup	ADD1, DOK7 +8 more	Duplication	not provided	GUncertain significance
Select item 1341125	GRCh37/hg19 4p16.3(chr4:2930651-3362806)x3	ADD1, GRK4 +5 more	Copy number gain	not provided	GUncertain significance
Select item 1341071	GRCh37/hg19 4p16.3-15.31(chr4:68345-20587167)x1	HGFAC, UVSSA +141 more	Copy number loss	not provided	GPathogenic
Select item 1180546	GRCh37/hg19 4p16.3-15.1(chr4:69671-29702595)x3	FGFBP2, SMIM20 +161 more	Copy number gain	not provided	GPathogenic
Select item 1180545	GRCh37/hg19 4p16.3-15.31(chr4:68598-18912995)x1	RGS12, RNF212 +140 more	Copy number loss	not provided	GPathogenic
Select item 1073308	NC_000004.11:g.(?_2200251)_(5710240_?)del	TMEM128, TNIP2 +28 more	Deletion	Curry-Hall syndrome +1 more	GPathogenic
Select item 1047903	GRCh37/hg19 4p16.3(chr4:388344-3872380)	HGFAC, HTT +48 more	Copy number loss	Generalized hypotonia +2 more	GPathogenic
Select item 979468	GRCh37/hg19 4p16.3-16.2(chr4:68345-5831521)x1	ZFYVE28, CRMP1 +65 more	Copy number loss	not provided	GPathogenic
Select item 979467	GRCh37/hg19 4p16.3-16.2(chr4:68345-5046326)x1	HGFAC, NOP14 +60 more	Copy number loss	not provided	GPathogenic
Select item 979457	GRCh37/hg19 4p16.3(chr4:1941633-3879802)x1	RGS12, LRPAP1 +21 more	Copy number loss	not provided	GPathogenic
Select item 977788	GRCh37/hg19 4p16.3-16.1(chr4:2909440-6871516)	PPP2R2C, RGS12 +32 more	Copy number loss	microdeletion 4p16.3p16.1	GLikely pathogenic
Select item 929396	GRCh37/hg19 4p16.3-11(chr4:49450-49620898)x3	KLF3, KLHL5 +226 more	Copy number gain	See cases	GPathogenic
Select item 816497	GRCh37/hg19 4p16.3-15.2(chr4:49450-24280482)x1	ADD1, ABLIM2 +146 more	Copy number loss	See cases	GPathogenic
Select item 814524	GRCh37/hg19 4p16.3-16.1(chr4:68345-10312798)x1	ABLIM2, ACOX3 +114 more	Copy number loss	not provided	GPathogenic
Select item 814523	GRCh37/hg19 4p16.3-16.1(chr4:68345-6984507)x1	ADD1, ADRA2C +76 more	Copy number loss	not provided	GPathogenic
Select item 814522	GRCh37/hg19 4p16.3-16.1(chr4:68345-8731855)x1	ABLIM2, ACOX3 +90 more	Copy number loss	not provided	GPathogenic
Select item 814521	GRCh37/hg19 4p16.3-16.1(chr4:68345-9768141)x1	ABLIM2, ACOX3 +111 more	Copy number loss	not provided	GPathogenic
Select item 814520	GRCh37/hg19 4p16.3-15.2(chr4:68345-27423424)x3	ABLIM2, ACOX3 +161 more	Copy number gain	not provided	GPathogenic
Select item 686294	GRCh37/hg19 4p16.3(chr4:68345-4051616)x3	ADD1, ADRA2C +52 more	Copy number gain	not provided	GPathogenic
Select item 685486	GRCh37/hg19 4p16.3(chr4:3035630-3515998)x3	DOK7, GRK4 +5 more	Copy number gain	not provided	GUncertain significance
Select item 625664	GRCh37/hg19 4p16.3-16.1(chr4:75742-8672411)	JAKMIP1, KIAA0232 +90 more	Copy number loss	4p partial monosomy syndrome	GPathogenic
Select item 562882	GRCh37/hg19 4p16.3(chr4:2730654-3265710)x3	SH3BP2, TNIP2 +7 more	Copy number gain	not provided	GUncertain significance
Select item 562881	GRCh37/hg19 4p16.3-16.2(chr4:2364201-5447465)x1	ZFYVE28, SH3BP2 +23 more	Copy number loss	not provided	GPathogenic
Select item 562874	GRCh37/hg19 4p16.3-11(chr4:68345-49089361)x3	GABRA2, GABRA4 +226 more	Copy number gain	not provided	GPathogenic
Select item 443978	GRCh37/hg19 4p16.3-16.1(chr4:68345-8731855)x3	ABLIM2, ACOX3 +90 more	Copy number gain	See cases	GLikely pathogenic
Select item 443045	GRCh37/hg19 4p16.3-15.32(chr4:68345-15973383)x1	NELFA, NICOL1 +130 more	Copy number loss	See cases	GPathogenic
Select item 443042	GRCh37/hg19 4p16.3(chr4:68345-4044985)x1	ADD1, ADRA2C +52 more	Copy number loss	See cases	GPathogenic
Select item 442536	GRCh37/hg19 4p16.3-15.33(chr4:68345-13770107)x1	ABLIM2, ACOX3 +120 more	Copy number loss	See cases	GPathogenic
Select item 442291	GRCh37/hg19 4p16.3(chr4:68345-3713599)x3	ADD1, ATP5ME +51 more	Copy number gain	See cases	GLikely pathogenic
Select item 442268	GRCh37/hg19 4p16.3-16.1(chr4:68345-10336032)x1	ABLIM2, ACOX3 +114 more	Copy number loss	See cases	GPathogenic
Select item 442177	GRCh37/hg19 4p16.3(chr4:68345-3891984)x1	ADD1, ADRA2C +52 more	Copy number loss	See cases	GPathogenic
Select item 441927	GRCh37/hg19 4p16.3-16.2(chr4:68345-5319773)x1	ADD1, ADRA2C +61 more	Copy number loss	See cases	GPathogenic
Select item 441812	GRCh37/hg19 4p16.3-q13.1(chr4:68345-66440622)x3	HTRA3, HTT +267 more	Copy number gain	See cases	GPathogenic
Select item 441728	GRCh37/hg19 4p16.3-q35.2(chr4:68346-190957473)	AADAT, AASDH +745 more	Copy number gain	See cases	GPathogenic
Select item 441727	GRCh37/hg19 4p16.3-q35.2(chr4:68346-190957473)x3	MRPL1, MSANTD1 +745 more	Copy number gain	See cases	GPathogenic
Select item 394609	GRCh37/hg19 4p16.3-q35.2(chr4:12440-190904441)x3	H2AZ1, HADH +744 more	Copy number gain	See cases	GPathogenic
Select item 394281	GRCh37/hg19 4p16.3-15.32(chr4:71552-15302739)x1	ABLIM2, ACOX3 +121 more	Copy number loss	See cases	GPathogenic
Select item 253666	GRCh37/hg19 4p16.3-16.1(chr4:127233-8667610)x3	ABLIM2, ACOX3 +89 more	Copy number gain	See cases	GPathogenic
Select item 253503	GRCh37/hg19 4p16.3-11(chr4:12440-49064044)x3	ABLIM2, ACOX3 +226 more	Copy number gain	See cases	GPathogenic
Select item 253431	GRCh37/hg19 4p16.3-15.1(chr4:71552-29006745)x1	BOD1L1, LDB2 +161 more	Copy number loss	See cases	GPathogenic
Select item 252966	GRCh37/hg19 4p16.3-16.1(chr4:49450-8872474)x1	KIAA0232, LETM1 +91 more	Copy number loss	See cases	GPathogenic
Select item 219020	GRCh37/hg19 4p16.3-15.31(chr4:44020-19796182)x1	C4orf50, EVC +140 more	Copy number loss	See cases	GPathogenic
Select item 155646	GRCh38/hg38 4p16.3-15.31(chr4:68453-20385608)x1	LOC129992028, LOC129992029 +691 more	Copy number loss	See cases	GPathogenic
Select item 155619	GRCh38/hg38 4p16.3-15.33(chr4:68453-14612453)x1	LOC129992002, LOC129992003 +597 more	Copy number loss	See cases	GPathogenic
Select item 155480	GRCh38/hg38 4p16.3-16.1(chr4:68453-6055026)x1	LOC101928279, LOC101928306 +346 more	Copy number loss	See cases	GPathogenic
Select item 155310	GRCh38/hg38 4p16.3-16.1(chr4:68453-8730129)x1	ABLIM2, ACOX3 +479 more	Copy number loss	See cases	GPathogenic
Select item 155180	GRCh38/hg38 4p16.3(chr4:36424-3881330)x1	ADD1, ADRA2C +279 more	Copy number loss	See cases	GPathogenic
Select item 154884	GRCh38/hg38 4p16.3-16.1(chr4:36424-7359817)x1	ADD1, ADRA2C +426 more	Copy number loss	See cases	GPathogenic

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