PALM[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58787	GRCh38/hg38 19p13.3(chr19:233565-4699472)x3	LOC130063041, LOC130063042 +687 more	Copy number gain	See cases	GPathogenic
Select item 154560	GRCh38/hg38 19p13.3(chr19:259395-6795611)x3	LOC130062978, LOC130062979 +903 more	Copy number gain	See cases	GPathogenic
Select item 146110	GRCh38/hg38 19p13.3(chr19:259395-2068507)x3	LOC130062818, LOC130062819 +332 more	Copy number gain	See cases	GPathogenic
Select item 59078	GRCh38/hg38 19p13.3(chr19:259395-1952650)x3	ABCA7, ABHD17A +321 more	Copy number gain	See cases	GPathogenic
Select item 57441	GRCh38/hg38 19p13.3(chr19:259395-819679)x3	BSG, BSG-AS1 +74 more	Copy number gain	See cases	GPathogenic
Select item 57357	GRCh38/hg38 19p13.3(chr19:259395-2555149)x3	ABCA7, ABHD17A +429 more	Copy number gain	See cases	GPathogenic
Select item 152851	GRCh38/hg38 19p13.3(chr19:275925-1892276)x3	ABCA7, ABHD17A +301 more	Copy number gain	See cases	GPathogenic
Select item 145542	GRCh38/hg38 19p13.3(chr19:421537-2897921)x3	ABCA7, ABHD17A +453 more	Copy number gain	See cases	GLikely pathogenic
Select item 59080	GRCh38/hg38 19p13.3(chr19:591812-1358152)x3	ABCA7, ARHGAP45 +168 more	Copy number gain	See cases	GPathogenic
Select item 60231	GRCh38/hg38 19p13.3(chr19:677680-899104)x3	AZU1, CFD +25 more	Copy number gain	See cases	GUncertain significance
Select item 1653599	NM_002579.3(PALM):c.5+9G>A	PALM	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2967681	NM_002579.3(PALM):c.5+12C>G	PALM	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2120362	NM_002579.3(PALM):c.5+15T>A	PALM	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1559278	NM_002579.3(PALM):c.6-10C>T	PALM	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1941941	NM_002579.3(PALM):c.6-5C>T	PALM	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2413624	NM_002579.3(PALM):c.6-4G>A	PALM	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1981142	NM_002579.3(PALM):c.14C>T (p.Ala5Val)	PALM (A5V)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 2060885	NM_002579.3(PALM):c.26C>T (p.Thr9Met)	PALM (T9M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1670523	NM_002579.3(PALM):c.27G>A (p.Thr9=)	PALM	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2990118	NM_002579.3(PALM):c.32A>C (p.Gln11Pro)	PALM (Q11P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1921029	NM_002579.3(PALM):c.57+10C>T	PALM	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1168478	NM_002579.3(PALM):c.57+11G>A	PALM	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1557131	NM_002579.3(PALM):c.57+13C>T	PALM	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1530285	NM_002579.3(PALM):c.57+17C>T	PALM	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1938410	NM_002579.3(PALM):c.57+18C>T	PALM	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2769445	NM_002579.3(PALM):c.57+20C>T	PALM	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1628350	NM_002579.3(PALM):c.58-18A>C	PALM	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1631069	NM_002579.3(PALM):c.58-14G>C	PALM	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1551129	NM_002579.3(PALM):c.58-13G>T	PALM	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1663535	NM_002579.3(PALM):c.58-11C>T	PALM	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2807193	NM_002579.3(PALM):c.58-9T>C	PALM	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1356959	NM_002579.3(PALM):c.58-6C>T	PALM	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2296474	NM_002579.3(PALM):c.70C>T (p.Arg24Trp)	PALM (R24W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 431724	NM_002579.3(PALM):c.71G>A (p.Arg24Gln)	PALM (R24Q)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 2488747	NM_002579.3(PALM):c.77C>T (p.Ala26Val)	PALM (A26V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2166498	NM_002579.3(PALM):c.78G>A (p.Ala26=)	PALM	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1614736	NM_002579.3(PALM):c.81G>A (p.Glu27=)	PALM	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1594385	NM_002579.3(PALM):c.84C>T (p.Ile28=)	PALM	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2759009	NM_002579.3(PALM):c.85G>C (p.Glu29Gln)	PALM (E29Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2866366	NM_002579.3(PALM):c.89A>C (p.Asn30Thr)	PALM (N30T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2721359	NM_002579.3(PALM):c.95G>A (p.Arg32His)	PALM (R32H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3208136	NM_002579.3(PALM):c.97C>T (p.Arg33Trp)	PALM (R33W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2045445	NM_002579.3(PALM):c.111C>T (p.Asp37=)	PALM	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2991407	NM_002579.3(PALM):c.138+3A>G	PALM	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1516832	NM_002579.3(PALM):c.138+4C>T	PALM	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2918805	NM_002579.3(PALM):c.138+5G>A	PALM	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1649597	NM_002579.3(PALM):c.138+8C>T	PALM	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1167660	NM_002579.3(PALM):c.138+9G>A	PALM	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3011734	NM_002579.3(PALM):c.138+11G>A	PALM	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1170257	NM_002579.3(PALM):c.138+17G>A	PALM	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1662735	NM_002579.3(PALM):c.138+20C>T	PALM	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1165121	NM_002579.3(PALM):c.139-20C>G	PALM	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1164987	NM_002579.3(PALM):c.139-14T>C	PALM	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1166927	NM_002579.3(PALM):c.139-12C>T	PALM	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1925886	NM_002579.3(PALM):c.152G>A (p.Arg51Gln)	PALM (R51Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2177072	NM_002579.3(PALM):c.176C>T (p.Thr59Met)	PALM (T59M)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 1532968	NM_002579.3(PALM):c.180G>A (p.Pro60=)	PALM	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1586853	NM_002579.3(PALM):c.228C>T (p.Asp76=)	PALM	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3002212	NM_002579.3(PALM):c.229G>A (p.Asp77Asn)	PALM (D77N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1572413	NM_002579.3(PALM):c.231C>T (p.Asp77=)	PALM	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2904625	NM_002579.3(PALM):c.244C>T (p.Arg82Trp)	PALM (R82W)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2978203	NM_002579.3(PALM):c.245G>A (p.Arg82Gln)	PALM (R82Q)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2174519	NM_002579.3(PALM):c.256G>T (p.Asp86Tyr)	PALM (D86Y)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1168479	NM_002579.3(PALM):c.270-18_270-17delinsCT	PALM	Indel (intron variant)	not provided	GBenign
Select item 1653659	NM_002579.3(PALM):c.270-11C>T	PALM	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1512863	NM_002579.3(PALM):c.273G>A (p.Leu91=)	PALM	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 1587375	NM_002579.3(PALM):c.288G>A (p.Glu96=)	PALM	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1415467	NM_002579.3(PALM):c.298C>T (p.Arg100Cys)	PALM (R100C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2722866	NM_002579.3(PALM):c.299G>A (p.Arg100His)	PALM (R100H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1392510	NM_002579.3(PALM):c.310G>A (p.Ala104Thr)	PALM (A104T)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 1165558	NM_002579.3(PALM):c.319A>G (p.Thr107Ala)	PALM (T107A)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 1537016	NM_002579.3(PALM):c.333C>T (p.Asn111=)	PALM	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1591225	NM_002579.3(PALM):c.336G>A (p.Ala112=)	PALM	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1359128	NM_002579.3(PALM):c.338C>T (p.Ala113Val)	PALM (A113V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2916329	NM_002579.3(PALM):c.344C>T (p.Pro115Leu)	PALM (P115L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2163267	NM_002579.3(PALM):c.345G>A (p.Pro115=)	PALM	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1168287	NM_002579.3(PALM):c.351A>G (p.Pro117=)	PALM	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1598284	NM_002579.3(PALM):c.355C>T (p.Arg119Trp)	PALM (R119W)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 1444292	NM_002579.3(PALM):c.356G>A (p.Arg119Gln)	PALM (R119Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2301416	NM_002579.3(PALM):c.359C>A (p.Ala120Asp)	PALM (A120D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1373251	NM_002579.3(PALM):c.368C>T (p.Pro123Leu)	PALM (P123L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1434825	NM_002579.3(PALM):c.388C>T (p.Arg130Cys)	PALM (R130C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1998291	NM_002579.3(PALM):c.389G>C (p.Arg130Pro)	PALM (R130P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1485237	NM_002579.3(PALM):c.418C>G (p.Gln140Glu)	PALM (Q140E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1628289	NM_002579.3(PALM):c.421-19TC[2]	PALM	Microsatellite (intron variant)	not provided	GLikely benign
Select item 1668519	NM_002579.3(PALM):c.421-11_421-9del	PALM	Microsatellite (intron variant)	not provided	GLikely benign
Select item 3009911	NM_002579.3(PALM):c.421-14C>T	PALM	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1447925	NM_002579.3(PALM):c.422C>T (p.Thr141Met)	PALM (T141M)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 2169473	NM_002579.3(PALM):c.425C>G (p.Pro142Arg)	PALM (P142R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2961753	NM_002579.3(PALM):c.426G>A (p.Pro142=)	PALM	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1581570	NM_002579.3(PALM):c.426G>T (p.Pro142=)	PALM	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2311153	NM_002579.3(PALM):c.430G>A (p.Gly144Ser)	PALM (G144S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2743348	NM_002579.3(PALM):c.431G>T (p.Gly144Val)	PALM (G144V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1504927	NM_002579.3(PALM):c.434C>T (p.Thr145Met)	PALM (T145M)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2976604	NM_002579.3(PALM):c.442+9T>C	PALM	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2060665	NM_002579.3(PALM):c.442+10C>T	PALM	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1528332	NM_002579.3(PALM):c.442+20C>G	PALM	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1899205	NM_002579.3(PALM):c.443-20C>T	PALM	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1629294	NM_002579.3(PALM):c.443-19G>A	PALM	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2721127	NM_002579.3(PALM):c.443-6G>A	PALM	Single nucleotide variant (intron variant)	not provided	GLikely benign

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