468[HGNC] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 154886	GRCh38/hg38 1p21.1-12(chr1:104325484-119977655)x3	LINC01780, LINC02868 +563 more	Copy number gain	See cases	GPathogenic
Select item 58084	GRCh38/hg38 1p13.3-12(chr1:109756630-118650204)x3	ADORA3, AHCYL1 +391 more	Copy number gain	See cases	GPathogenic
Select item 150274	GRCh38/hg38 1p13.2(chr1:114499327-114926423)x1	AMPD1, BCAS2 +19 more	Copy number loss	See cases	GUncertain significance
Select item 2322122	NM_000036.3(AMPD1):c.2227C>A (p.Leu743Ile)	AMPD1 (L743I +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2111786	NM_000036.3(AMPD1):c.2224G>C (p.Gly742Arg)	AMPD1 (G742R +1 more)	Single nucleotide variant (missense variant)	Muscle AMP deaminase deficiency	GUncertain significance
Select item 3116605	NM_000036.3(AMPD1):c.2185T>G (p.Tyr729Asp)	AMPD1 (Y729D +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2139645	NM_000036.3(AMPD1):c.2183G>A (p.Arg728His)	AMPD1 (R724H +1 more)	Single nucleotide variant (missense variant)	Muscle AMP deaminase deficiency	GUncertain significance
Select item 547862	NM_000036.3(AMPD1):c.2182C>T (p.Arg728Cys)	AMPD1 (R761C +2 more)	Single nucleotide variant (missense variant)	Muscle AMP deaminase deficiency	GUncertain significance
Select item 1030545	NM_000036.3(AMPD1):c.2181T>A (p.Tyr727Ter)	AMPD1 (Y727* +1 more)	Single nucleotide variant (nonsense)	Muscle AMP deaminase deficiency	GLikely pathogenic
Select item 194583	NM_000036.3(AMPD1):c.2173A>G (p.Met725Val)	AMPD1 (M721V +1 more)	Single nucleotide variant (missense variant)	Muscle AMP deaminase deficiency +1 more	GUncertain significance
Select item 2180658	NM_000036.3(AMPD1):c.2171G>A (p.Arg724His)	AMPD1 (R720H +1 more)	Single nucleotide variant (missense variant)	Muscle AMP deaminase deficiency	GUncertain significance
Select item 1721735	NM_000036.3(AMPD1):c.2171G>C (p.Arg724Pro)	AMPD1 (R720P +1 more)	Single nucleotide variant (missense variant)	Muscle AMP deaminase deficiency	GUncertain significance
Select item 1478480	NM_000036.3(AMPD1):c.2171G>T (p.Arg724Leu)	AMPD1 (R720L +1 more)	Single nucleotide variant (missense variant)	Muscle AMP deaminase deficiency	GUncertain significance
Select item 2137577	NM_000036.3(AMPD1):c.2170C>T (p.Arg724Cys)	AMPD1 (R720C +1 more)	Single nucleotide variant (missense variant)	Muscle AMP deaminase deficiency	GUncertain significance
Select item 2610236	NM_000036.3(AMPD1):c.2150G>A (p.Arg717Lys)	AMPD1 (R713K +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2169136	NM_000036.3(AMPD1):c.2147G>A (p.Arg716Gln)	AMPD1 (R712Q +1 more)	Single nucleotide variant (missense variant)	Muscle AMP deaminase deficiency	GUncertain significance
Select item 1425905	NM_000036.3(AMPD1):c.2146C>T (p.Arg716Trp)	AMPD1 (R716W +1 more)	Single nucleotide variant (missense variant)	Muscle AMP deaminase deficiency	GUncertain significance
Select item 2088996	NM_000036.3(AMPD1):c.2135G>A (p.Gly712Glu)	AMPD1 (G712E +1 more)	Single nucleotide variant (missense variant)	Muscle AMP deaminase deficiency	GUncertain significance
Select item 1611747	NM_000036.3(AMPD1):c.2133T>A (p.Ala711=)	AMPD1	Single nucleotide variant (synonymous variant)	Muscle AMP deaminase deficiency	GLikely benign
Select item 2963358	NM_000036.3(AMPD1):c.2126G>A (p.Gly709Asp)	AMPD1 (G705D +1 more)	Single nucleotide variant (missense variant)	Muscle AMP deaminase deficiency	GUncertain significance
Select item 2473292	NM_000036.3(AMPD1):c.2122G>A (p.Glu708Lys)	AMPD1 (E704K +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2060466	NM_000036.3(AMPD1):c.2116C>G (p.Leu706Val)	AMPD1 (L702V +1 more)	Single nucleotide variant (missense variant)	Muscle AMP deaminase deficiency	GUncertain significance
Select item 992300	NM_000036.3(AMPD1):c.2113T>C (p.Tyr705His)	AMPD1 (Y705H +1 more)	Single nucleotide variant (missense variant)	Muscle AMP deaminase deficiency +2 more	GUncertain significance
Select item 2057076	NM_000036.3(AMPD1):c.2107G>A (p.Asp703Asn)	AMPD1 (D699N +1 more)	Single nucleotide variant (missense variant)	Muscle AMP deaminase deficiency	GUncertain significance
Select item 3021706	NM_000036.3(AMPD1):c.2106C>A (p.Gly702=)	AMPD1	Single nucleotide variant (synonymous variant)	Muscle AMP deaminase deficiency	GLikely benign
Select item 2154004	NM_000036.3(AMPD1):c.2106C>T (p.Gly702=)	AMPD1	Single nucleotide variant (synonymous variant)	Muscle AMP deaminase deficiency	GLikely benign
Select item 1515724	NM_000036.3(AMPD1):c.2102T>A (p.Leu701Gln)	AMPD1 (L697Q +1 more)	Single nucleotide variant (missense variant)	Muscle AMP deaminase deficiency	GUncertain significance
Select item 2015525	NM_000036.3(AMPD1):c.2092G>C (p.Val698Leu)	AMPD1 (V698L +1 more)	Single nucleotide variant (missense variant)	Muscle AMP deaminase deficiency	GUncertain significance
Select item 2170084	NM_000036.3(AMPD1):c.2086-3T>C	AMPD1	Single nucleotide variant (intron variant)	Muscle AMP deaminase deficiency	GUncertain significance
Select item 1953611	NM_000036.3(AMPD1):c.2086-7C>T	AMPD1	Single nucleotide variant (intron variant)	Muscle AMP deaminase deficiency	GLikely benign
Select item 1456426	NM_000036.3(AMPD1):c.2086-11T>C	AMPD1	Single nucleotide variant (intron variant)	Muscle AMP deaminase deficiency	GLikely benign
Select item 1651053	NM_000036.3(AMPD1):c.2086-19C>T	AMPD1	Single nucleotide variant (intron variant)	Muscle AMP deaminase deficiency	GLikely benign
Select item 2439027	NM_000036.3(AMPD1):c.2063T>C (p.Leu688Ser)	AMPD1 (L684S +1 more)	Single nucleotide variant (missense variant)	Muscle AMP deaminase deficiency	GUncertain significance
Select item 2055743	NM_000036.3(AMPD1):c.2044G>C (p.Val682Leu)	AMPD1 (V678L +1 more)	Single nucleotide variant (missense variant)	Muscle AMP deaminase deficiency	GUncertain significance
Select item 2169146	NM_000036.3(AMPD1):c.2041G>A (p.Glu681Lys)	AMPD1 (E681K +1 more)	Single nucleotide variant (missense variant)	Muscle AMP deaminase deficiency	GUncertain significance
Select item 2969865	NM_000036.3(AMPD1):c.2040C>T (p.Cys680=)	AMPD1	Single nucleotide variant (synonymous variant)	Muscle AMP deaminase deficiency	GLikely benign
Select item 2202831	NM_000036.3(AMPD1):c.2036T>C (p.Met679Thr)	AMPD1 (M675T +1 more)	Single nucleotide variant (missense variant)	Muscle AMP deaminase deficiency	GUncertain significance
Select item 1482197	NM_000036.3(AMPD1):c.2033A>G (p.Asp678Gly)	AMPD1 (D674G +1 more)	Single nucleotide variant (missense variant)	Muscle AMP deaminase deficiency	GUncertain significance
Select item 3116591	NM_000036.3(AMPD1):c.2026A>G (p.Thr676Ala)	AMPD1 (T676A +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 847306	NM_000036.3(AMPD1):c.2005G>A (p.Ala669Thr)	AMPD1 (A702T +2 more)	Single nucleotide variant (missense variant)	Muscle AMP deaminase deficiency	GUncertain significance
Select item 1424886	NM_000036.3(AMPD1):c.1986G>A (p.Met662Ile)	AMPD1 (M662I +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1428346	NM_000036.3(AMPD1):c.1979C>T (p.Pro660Leu)	AMPD1 (P656L +1 more)	Single nucleotide variant (missense variant)	Muscle AMP deaminase deficiency	GUncertain significance
Select item 1417304	NM_000036.3(AMPD1):c.1979C>A (p.Pro660His)	AMPD1 (P656H +1 more)	Single nucleotide variant (missense variant)	Muscle AMP deaminase deficiency	GUncertain significance
Select item 288566	NM_000036.3(AMPD1):c.1975-10A>G	AMPD1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1603864	NM_000036.3(AMPD1):c.1975-12A>T	AMPD1	Single nucleotide variant (intron variant)	Muscle AMP deaminase deficiency	GLikely benign
Select item 2014132	NM_000036.3(AMPD1):c.1975-20_1975-18dup	AMPD1	Duplication (intron variant)	Muscle AMP deaminase deficiency	GLikely benign
Select item 3011471	NM_000036.3(AMPD1):c.1975-18C>T	AMPD1	Single nucleotide variant (intron variant)	Muscle AMP deaminase deficiency	GLikely benign
Select item 496869	NM_000036.3(AMPD1):c.1975-23T>A	AMPD1	Single nucleotide variant (intron variant)	not specified +1 more	GBenign
Select item 1946100	NM_000036.3(AMPD1):c.1974+16G>T	AMPD1	Single nucleotide variant (intron variant)	Muscle AMP deaminase deficiency	GLikely benign
Select item 1564667	NM_000036.3(AMPD1):c.1974+9T>C	AMPD1	Single nucleotide variant (intron variant)	Muscle AMP deaminase deficiency	GLikely benign
Select item 2118241	NM_000036.3(AMPD1):c.1974+8A>G	AMPD1	Single nucleotide variant (intron variant)	Muscle AMP deaminase deficiency	GLikely benign
Select item 2722745	NM_000036.3(AMPD1):c.1974+7T>C	AMPD1	Single nucleotide variant (intron variant)	Muscle AMP deaminase deficiency	GUncertain significance
Select item 1400023	NM_000036.3(AMPD1):c.1974+1G>C	AMPD1	Single nucleotide variant (splice donor variant)	Muscle AMP deaminase deficiency	GUncertain significance
Select item 1207113	NM_000036.3(AMPD1):c.1974+1G>A	AMPD1	Single nucleotide variant (splice donor variant)	Muscle AMP deaminase deficiency +2 more	GUncertain significance
Select item 1541597	NM_000036.3(AMPD1):c.1971C>G (p.Thr657=)	AMPD1	Single nucleotide variant (synonymous variant)	Muscle AMP deaminase deficiency	GLikely benign
Select item 2276123	NM_000036.3(AMPD1):c.1955T>C (p.Met652Thr)	AMPD1 (M652T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2104126	NM_000036.3(AMPD1):c.1955T>A (p.Met652Lys)	AMPD1 (M652K +1 more)	Single nucleotide variant (missense variant)	Muscle AMP deaminase deficiency	GUncertain significance
Select item 92334	NM_000036.3(AMPD1):c.1947T>C (p.Asp649=)	AMPD1	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign
Select item 2481675	NM_000036.3(AMPD1):c.1946A>G (p.Asp649Gly)	AMPD1 (D649G +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 91875	NM_000036.3(AMPD1):c.1943C>T (p.Thr648Ile)	AMPD1 (T681I +2 more)	Single nucleotide variant (missense variant)	Autism	GUncertain significance
Select item 2439024	NM_000036.3(AMPD1):c.1931T>A (p.Ile644Asn)	AMPD1 (I640N +1 more)	Single nucleotide variant (missense variant)	Muscle AMP deaminase deficiency	GUncertain significance
Select item 1575440	NM_000036.3(AMPD1):c.1924C>T (p.Leu642=)	AMPD1	Single nucleotide variant (synonymous variant)	Muscle AMP deaminase deficiency	GLikely benign
Select item 166680	NM_000036.3(AMPD1):c.1911C>T (p.Phe637=)	AMPD1	Single nucleotide variant (synonymous variant)	Muscle AMP deaminase deficiency +2 more	GBenign
Select item 2825490	NM_000036.3(AMPD1):c.1886A>G (p.Tyr629Cys)	AMPD1 (Y625C +1 more)	Single nucleotide variant (missense variant)	Muscle AMP deaminase deficiency	GUncertain significance
Select item 2498412	NM_000036.3(AMPD1):c.1875A>G (p.Leu625=)	AMPD1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2064278	NM_000036.3(AMPD1):c.1873C>G (p.Leu625Val)	AMPD1 (L621V +1 more)	Single nucleotide variant (missense variant)	Muscle AMP deaminase deficiency	GUncertain significance
Select item 1474096	NM_000036.3(AMPD1):c.1849A>G (p.Met617Val)	AMPD1 (M617V +1 more)	Single nucleotide variant (missense variant)	Muscle AMP deaminase deficiency	GUncertain significance
Select item 2059086	NM_000036.3(AMPD1):c.1846G>A (p.Ala616Thr)	AMPD1 (A616T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 166681	NM_000036.3(AMPD1):c.1845C>T (p.Ile615=)	AMPD1	Single nucleotide variant (synonymous variant)	Muscle AMP deaminase deficiency +2 more	GBenign
Select item 289235	NM_000036.3(AMPD1):c.1819T>C (p.Leu607=)	AMPD1	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1484635	NM_000036.3(AMPD1):c.1813C>A (p.Gln605Lys)	AMPD1 (Q601K +1 more)	Single nucleotide variant (missense variant)	Muscle AMP deaminase deficiency	GUncertain significance
Select item 1440482	NM_000036.3(AMPD1):c.1813C>T (p.Gln605Ter)	AMPD1 (Q601* +1 more)	Single nucleotide variant (nonsense)	Muscle AMP deaminase deficiency	GUncertain significance
Select item 1920694	NM_000036.3(AMPD1):c.1808T>G (p.Val603Gly)	AMPD1 (V599G +1 more)	Single nucleotide variant (missense variant)	Muscle AMP deaminase deficiency	GUncertain significance
Select item 1417086	NM_000036.3(AMPD1):c.1807G>A (p.Val603Met)	AMPD1 (V599M +1 more)	Single nucleotide variant (missense variant)	Muscle AMP deaminase deficiency	GUncertain significance
Select item 2150109	NM_000036.3(AMPD1):c.1806C>G (p.Pro602=)	AMPD1	Single nucleotide variant (synonymous variant)	Muscle AMP deaminase deficiency	GLikely benign
Select item 1645656	NM_000036.3(AMPD1):c.1806C>T (p.Pro602=)	AMPD1	Single nucleotide variant (synonymous variant)	Muscle AMP deaminase deficiency	GBenign
Select item 497865	NM_000036.3(AMPD1):c.1801-9C>T	AMPD1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1264107	NM_000036.3(AMPD1):c.1801-183G>A	AMPD1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1270931	NM_000036.3(AMPD1):c.1801-188C>A	AMPD1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1259806	NM_000036.3(AMPD1):c.1801-266G>A	AMPD1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1580527	NM_000036.3(AMPD1):c.1800+16T>C	AMPD1	Single nucleotide variant (intron variant)	Muscle AMP deaminase deficiency	GLikely benign
Select item 1543783	NM_000036.3(AMPD1):c.1800+15C>G	AMPD1	Single nucleotide variant (intron variant)	Muscle AMP deaminase deficiency	GLikely benign
Select item 1904897	NM_000036.3(AMPD1):c.1800+14T>G	AMPD1	Single nucleotide variant (intron variant)	Muscle AMP deaminase deficiency	GLikely benign
Select item 2725226	NM_000036.3(AMPD1):c.1800+12G>T	AMPD1	Single nucleotide variant (intron variant)	Muscle AMP deaminase deficiency	GLikely benign
Select item 1937888	NM_000036.3(AMPD1):c.1800+7T>C	AMPD1	Single nucleotide variant (intron variant)	Muscle AMP deaminase deficiency	GLikely benign
Select item 559257	NM_000036.3(AMPD1):c.1794A>T (p.Leu598Phe)	AMPD1 (L631F +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2969877	NM_000036.3(AMPD1):c.1782T>C (p.His594=)	AMPD1	Single nucleotide variant (synonymous variant)	Muscle AMP deaminase deficiency	GLikely benign
Select item 91874	NM_000036.3(AMPD1):c.1778C>G (p.Ser593Cys)	AMPD1 (S626C +2 more)	Single nucleotide variant (missense variant)	Autism	GUncertain significance
Select item 2140385	NM_000036.3(AMPD1):c.1772A>C (p.Asp591Ala)	AMPD1 (D587A +1 more)	Single nucleotide variant (missense variant)	Muscle AMP deaminase deficiency	GUncertain significance
Select item 1431266	NM_000036.3(AMPD1):c.1761G>A (p.Met587Ile)	AMPD1 (M583I +1 more)	Single nucleotide variant (missense variant)	Muscle AMP deaminase deficiency	GUncertain significance
Select item 1963652	NM_000036.3(AMPD1):c.1753G>A (p.Ala585Thr)	AMPD1 (A581T +1 more)	Single nucleotide variant (missense variant)	Muscle AMP deaminase deficiency	GUncertain significance
Select item 1931655	NM_000036.3(AMPD1):c.1752A>G (p.Thr584=)	AMPD1	Single nucleotide variant (synonymous variant)	Muscle AMP deaminase deficiency	GLikely benign
Select item 1947835	NM_000036.3(AMPD1):c.1747A>T (p.Met583Leu)	AMPD1 (M579L +1 more)	Single nucleotide variant (missense variant)	Muscle AMP deaminase deficiency	GUncertain significance
Select item 1543295	NM_000036.3(AMPD1):c.1743T>C (p.His581=)	AMPD1	Single nucleotide variant (synonymous variant)	Muscle AMP deaminase deficiency	GLikely benign
Select item 1898890	NM_000036.3(AMPD1):c.1739C>T (p.Thr580Ile)	AMPD1 (T580I +1 more)	Single nucleotide variant (missense variant)	Muscle AMP deaminase deficiency	GUncertain significance
Select item 2097345	NM_000036.3(AMPD1):c.1734C>T (p.Ala578=)	AMPD1	Single nucleotide variant (synonymous variant)	Muscle AMP deaminase deficiency	GLikely benign
Select item 2462542	NM_000036.3(AMPD1):c.1732G>A (p.Ala578Thr)	AMPD1 (A578T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1402959	NM_000036.3(AMPD1):c.1729G>A (p.Gly577Arg)	AMPD1 (G573R +1 more)	Single nucleotide variant (missense variant)	Muscle AMP deaminase deficiency	GUncertain significance
Select item 286655	NM_000036.3(AMPD1):c.1721G>A (p.Gly574Glu)	AMPD1 (G607E +2 more)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 1429754	NM_000036.3(AMPD1):c.1709G>A (p.Arg570Gln)	AMPD1 (R566Q +1 more)	Single nucleotide variant (missense variant)	Muscle AMP deaminase deficiency	GUncertain significance

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