11012[HGNC] - ClinVar

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Items: 32

	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 2468036	NM_021194.3(SLC30A1):c.1474G>C (p.Val492Leu)	SLC30A1 (V492L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3164213	NM_021194.3(SLC30A1):c.1424A>G (p.Asn475Ser)	SLC30A1 (N475S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2549791	NM_021194.3(SLC30A1):c.1364C>G (p.Ser455Cys)	SLC30A1 (S455C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3164218	NM_021194.3(SLC30A1):c.904C>T (p.His302Tyr)	SLC30A1 (H302Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2494175	NM_021194.3(SLC30A1):c.824G>T (p.Gly275Val)	SLC30A1 (G275V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3319494	NM_021194.3(SLC30A1):c.631A>T (p.Asn211Tyr)	SLC30A1 (N211Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3164217	NM_021194.3(SLC30A1):c.600C>G (p.Asn200Lys)	LOC129932451, SLC30A1 (N200K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3164216	NM_021194.3(SLC30A1):c.592A>C (p.Asn198His)	LOC129932451, SLC30A1 (N198H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2534581	NM_021194.3(SLC30A1):c.373C>G (p.Leu125Val)	SLC30A1 (L125V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3164214	NM_021194.3(SLC30A1):c.142G>A (p.Val48Met)	SLC30A1 (V48M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2210294	NM_021194.3(SLC30A1):c.98C>T (p.Ser33Leu)	SLC30A1 (S33L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3164215	NM_021194.3(SLC30A1):c.22C>T (p.Arg8Trp)	SLC30A1 (R8W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3319495	NM_021194.3(SLC30A1):c.21C>G (p.Asn7Lys)	SLC30A1 (N7K)	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: 32