28985[HGNC] - ClinVar

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Items: 29

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58112	GRCh38/hg38 1q31.1-42.11(chr1:187143981-224299417)x3	LOC129932539, LOC129932540 +1148 more	Copy number gain	See cases	GPathogenic
Select item 153790	GRCh38/hg38 1q32.1-42.12(chr1:204764914-225408698)x3	LOC129388734, LOC129388735 +723 more	Copy number gain	See cases	GPathogenic
Select item 155660	GRCh38/hg38 1q32.2-44(chr1:207346642-248930485)x3	ABCB10, ACBD3 +1428 more	Copy number gain	See cases	GPathogenic
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 58116	GRCh38/hg38 1q32.2-44(chr1:209646207-248931113)x3	LOC120908923, LOC120947224 +1352 more	Copy number gain	See cases	GPathogenic
Select item 145652	GRCh38/hg38 1q32.2-44(chr1:209963625-248918469)x3	ABCB10, ACBD3 +1326 more	Copy number gain	See cases	GPathogenic
Select item 2556540	NM_014873.3(LPGAT1):c.1097A>G (p.Tyr366Cys)	LPGAT1 (Y399C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2591478	NM_014873.3(LPGAT1):c.1083C>G (p.Ile361Met)	LPGAT1 (I361M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2494398	NM_014873.3(LPGAT1):c.1064G>T (p.Gly355Val)	LPGAT1 (G355V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2336954	NM_014873.3(LPGAT1):c.977C>G (p.Ser326Cys)	LPGAT1 (S359C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3119752	NM_014873.3(LPGAT1):c.893A>G (p.Asp298Gly)	LPGAT1 (D331G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2611760	NM_014873.3(LPGAT1):c.872A>G (p.Asp291Gly)	LPGAT1 (D291G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 783964	NM_014873.3(LPGAT1):c.855-10C>T	LPGAT1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3291171	NM_014873.3(LPGAT1):c.589G>C (p.Ala197Pro)	LPGAT1 (A197P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2252881	NM_014873.3(LPGAT1):c.581C>T (p.Thr194Ile)	LPGAT1 (T194I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2608833	NM_014873.3(LPGAT1):c.295G>C (p.Val99Leu)	LPGAT1 (V99L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3248093	NC_000001.10:g.(?_190829412)_(216061974_?)del	RPS6KC1, SERTAD4 +185 more	Deletion	not provided	GPathogenic
Select item 1809264	GRCh37/hg19 1q25.3-32.3(chr1:181453460-213107248)x3	ASPM, IPO9 +211 more	Copy number gain	not provided	GPathogenic
Select item 1708464	GRCh37/hg19 1q31.3-44(chr1:197867914-249224684)x3	COA6, COG2 +381 more	Copy number gain	See cases	GPathogenic
Select item 1003645	NC_000001.10:g.(?_130980840)_(248900000_?)dup	FCGR3A, LCE3C +956 more	Duplication	Parathyroid carcinoma +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	C4BPB, CACNA1S +433 more	Copy number gain	not provided	GPathogenic
Select item 523270	GRCh37/hg19 1q32.1-32.3(chr1:204682513-212815646)	CAMK1G, CD34 +75 more	Copy number loss	Global developmental delay +2 more	GPathogenic
Select item 442387	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)	CD34, CD46 +2014 more	Copy number gain	See cases	GPathogenic
Select item 442386	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3	GPATCH2, GPATCH3 +2014 more	Copy number gain	See cases	GPathogenic
Select item 394081	GRCh37/hg19 1q31.3-44(chr1:195483439-249213000)x3	AVPR1B, B3GALNT2 +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

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Items: 29