ClinVar for Gene (Select 55248) - ClinVar

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Links from Gene

Items: 42

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3207880	NM_018252.3(PACC1):c.758G>A (p.Arg253Gln)	PACC1 (R176Q +3 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3207879	NM_018252.3(PACC1):c.8G>C (p.Arg3Pro)	PACC1 (R3P)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3207878	NM_018252.3(PACC1):c.710G>A (p.Arg237His)	PACC1 (R167H +3 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3207877	NM_018252.3(PACC1):c.586T>C (p.Phe196Leu)	PACC1 (F196L +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3207876	NM_018252.3(PACC1):c.572A>G (p.Lys191Arg)	PACC1 (K191R +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3207875	NM_018252.3(PACC1):c.563G>A (p.Arg188His)	PACC1 (R118H +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3207874	NM_018252.3(PACC1):c.436G>A (p.Asp146Asn)	PACC1 (D146N +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3207872	NM_018252.3(PACC1):c.424G>A (p.Gly142Ser)	PACC1 (G203S +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3207871	NM_018252.3(PACC1):c.380G>A (p.Ser127Asn)	PACC1 (S50N +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3207870	NM_018252.3(PACC1):c.364C>A (p.Gln122Lys)	PACC1 (Q183K +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3207869	NM_018252.3(PACC1):c.328C>T (p.Arg110Cys)	PACC1 (R33C +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3207868	NM_018252.3(PACC1):c.36+652C>T	PACC1 (P16L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3207867	NM_018252.3(PACC1):c.200C>T (p.Ser67Leu)	PACC1 (S128L +1 more)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 3207866	NM_018252.3(PACC1):c.36+781C>G	PACC1 (P59R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3207865	NM_018252.3(PACC1):c.36+760G>C	PACC1 (W52S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3207864	NM_018252.3(PACC1):c.1040G>A (p.Ser347Asn)	PACC1 (S270N +3 more)	Single nucleotide variant (missense variant +2 more)	not specified	GLikely benign
Select item 3207863	NM_018252.3(PACC1):c.1037C>T (p.Thr346Met)	PACC1 (T269M +3 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2565596	NM_018252.3(PACC1):c.785C>T (p.Thr262Ile)	PACC1 (Q214* +4 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2531553	NM_018252.3(PACC1):c.36+777G>C	PACC1 (V58L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2482135	NM_018252.3(PACC1):c.750G>C (p.Glu250Asp)	PACC1 (E250D +3 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2481456	NM_018252.3(PACC1):c.475C>G (p.Pro159Ala)	PACC1 (P159A +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2466765	NM_018252.3(PACC1):c.167G>A (p.Arg56His)	PACC1 (R117H +1 more)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 1809607	GRCh38/hg38 1q32.2-42.13(chr1:228006998-228061271)x2	LOC126806029, LOC129932471 +720 more	Copy number loss	Orofacial cleft 2	Gassociation
Select item 1809264	GRCh37/hg19 1q25.3-32.3(chr1:181453460-213107248)x3	IGFN1, IKBKE +211 more	Copy number gain	not provided	GPathogenic
Select item 1708464	GRCh37/hg19 1q31.3-44(chr1:197867914-249224684)x3	ABCB10, ACBD3 +381 more	Copy number gain	See cases	GPathogenic
Select item 1338832	GRCh38/hg38 1q32.3(chr1:212337801-213362035)	ANGEL2, ATF3 +66 more	Copy number loss	Diaphragmatic hernia	GUncertain significance
Select item 1003645	NC_000001.10:g.(?_130980840)_(248900000_?)dup	KLHL12, LNCATV +956 more	Duplication	Paragangliomas 3 +2 more	GUncertain significance
Select item 929379	GRCh37/hg19 1q32.2-44(chr1:210152794-249218992)x3	CHML, CHRM3 +250 more	Copy number gain	See cases	GPathogenic
Select item 816482	GRCh37/hg19 1q32.1-44(chr1:204045948-249218992)x3	C1orf35, C1orf74 +320 more	Copy number gain	See cases	GPathogenic
Select item 688022	GRCh37/hg19 1q32.1-32.3(chr1:206329070-213263817)x3	ANGEL2, ATF3 +63 more	Copy number gain	not provided	GUncertain significance
Select item 685144	GRCh37/hg19 1q25.3-44(chr1:182388773-249111240)x3	CAPN9, CATSPERE +433 more	Copy number gain	not provided	GPathogenic
Select item 565220	GRCh37/hg19 1q32.3(chr1:212323040-212681049)x3	NENF, PPP2R5A +1 more	Copy number gain	not provided	GLikely benign
Select item 523270	GRCh37/hg19 1q32.1-32.3(chr1:204682513-212815646)	EIF2D, LPGAT1 +75 more	Copy number loss	Global developmental delay +2 more	GPathogenic
Select item 442387	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)	PADI1, PADI2 +2014 more	Copy number gain	See cases	GPathogenic
Select item 442386	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3	NID1, NIPAL3 +2014 more	Copy number gain	See cases	GPathogenic
Select item 394081	GRCh37/hg19 1q31.3-44(chr1:195483439-249213000)x3	ABCB10, ACBD3 +393 more	Copy number gain	See cases	GPathogenic
Select item 253654	GRCh37/hg19 1q31.3-42.13(chr1:197811907-228997888)x3	ACBD3, ADIPOR1 +242 more	Copy number gain	See cases	GPathogenic
Select item 155660	GRCh38/hg38 1q32.2-44(chr1:207346642-248930485)x3	ABCB10, ACBD3 +1427 more	Copy number gain	See cases	GPathogenic
Select item 153790	GRCh38/hg38 1q32.1-42.12(chr1:204764914-225408698)x3	LOC126806027, LOC126806028 +723 more	Copy number gain	See cases	GPathogenic
Select item 145652	GRCh38/hg38 1q32.2-44(chr1:209963625-248918469)x3	LOC129932493, LOC129932494 +1325 more	Copy number gain	See cases	GPathogenic
Select item 58116	GRCh38/hg38 1q32.2-44(chr1:209646207-248931113)x3	OR2M4, OR2M5 +1351 more	Copy number gain	See cases	GPathogenic
Select item 58112	GRCh38/hg38 1q31.1-42.11(chr1:187143981-224299417)x3	LOC129932244, LOC129932245 +1147 more	Copy number gain	See cases	GPathogenic

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Links from Gene

Items: 42