ClinVar for Gene (Select 947) - ClinVar

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Links from Gene

Items: 45

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3264823	NM_001025109.2(CD34):c.74T>C (p.Leu25Ser)	CD34 (L25S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3264822	NM_001025109.2(CD34):c.244G>A (p.Ala82Thr)	CD34 (A82T)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3264821	NM_001025109.2(CD34):c.1138G>A (p.Val380Met)	CD34 (V380M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3248093	NC_000001.10:g.(?_190829412)_(216061974_?)del	RPS6KC1, SERTAD4 +185 more	Deletion	not provided	GPathogenic
Select item 3140563	NM_001025109.2(CD34):c.958A>T (p.Thr320Ser)	CD34 (T320S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3140561	NM_001025109.2(CD34):c.239A>G (p.Asn80Ser)	CD34 (N80S)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3140560	NM_001025109.2(CD34):c.206G>A (p.Ser69Asn)	CD34 (S69N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3140559	NM_001025109.2(CD34):c.1135G>C (p.Val379Leu)	CD34 (V379L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3140558	NM_001025109.2(CD34):c.1028C>A (p.Pro343His)	CD34 (P343H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2617540	NM_001025109.2(CD34):c.139G>C (p.Gly47Arg)	CD34 (G47R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2605428	NM_001025109.2(CD34):c.254A>G (p.Asn85Ser)	CD34 (N85S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2590906	NM_001025109.2(CD34):c.793T>C (p.Ser265Pro)	CD34 (S265P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2589328	NM_001025109.2(CD34):c.52A>C (p.Thr18Pro)	CD34 (T18P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2558829	NM_001025109.2(CD34):c.779T>G (p.Met260Arg)	CD34 (M260R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2422293	NC_000001.10:g.(?_200522516)_(208391267_?)dup	ADIPOR1, ADORA1 +110 more	Duplication	not provided	GUncertain significance
Select item 2386805	NM_001025109.2(CD34):c.941G>A (p.Arg314His)	CD34 (R314H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2385816	NM_001025109.2(CD34):c.478C>T (p.Pro160Ser)	CD34 (P160S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2379871	NM_001025109.2(CD34):c.405G>T (p.Lys135Asn)	CD34 (K135N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2332136	NM_001025109.2(CD34):c.974G>A (p.Gly325Asp)	CD34 (G325D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2309960	NM_001025109.2(CD34):c.665C>T (p.Ala222Val)	CD34 (A222V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2309528	NM_001025109.2(CD34):c.1086C>A (p.Asn362Lys)	CD34 (N362K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2274001	NM_001025109.2(CD34):c.258C>G (p.Ile86Met)	CD34 (I86M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2230559	NM_001025109.2(CD34):c.654G>C (p.Glu218Asp)	CD34 (E218D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2226700	NM_001025109.2(CD34):c.1094G>A (p.Gly365Asp)	CD34 (G365D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2222431	NM_001025109.2(CD34):c.944G>A (p.Arg315His)	CD34 (R315H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2207158	NM_001025109.2(CD34):c.109G>A (p.Gly37Ser)	CD34 (G37S)	Single nucleotide variant (missense variant)	not specified	GLikely benign
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 1409891	NC_000001.10:g.(?_206941981)_(208391267_?)dup	C1orf116, C4BPA +19 more	Duplication	Immunodeficiency, common variable, 7 +1 more	GUncertain significance
Select item 1003645	NC_000001.10:g.(?_130980840)_(248900000_?)dup	FCGR3A, LCE3C +956 more	Duplication	Parathyroid carcinoma +2 more	GUncertain significance
Select item 972964	GRCh37/hg19 1q31.3-32.2(chr1:194356425-210988710)x3	CD34, MDM4 +145 more	Copy number gain	not provided	Gnot provided
Select item 816482	GRCh37/hg19 1q32.1-44(chr1:204045948-249218992)x3	C1orf35, C1orf74 +320 more	Copy number gain	See cases	GPathogenic
Select item 725461	NM_001025109.2(CD34):c.379G>A (p.Val127Ile)	CD34 (V127I)	Single nucleotide variant (missense variant)	not provided	GLikely benign
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 545154	NC_000001.11:g.(?_204033173)_(208209798_?)del	LOC129932391, PIK3C2B +278 more	Deletion	Autism	GLikely pathogenic
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
Select item 155660	GRCh38/hg38 1q32.2-44(chr1:207346642-248930485)x3	ABCB10, ACBD3 +1428 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 150129	GRCh38/hg38 1q32.2(chr1:207583527-210159181)x1	C1orf74, CAMK1G +97 more	Copy number loss	See cases	GPathogenic
Select item 58112	GRCh38/hg38 1q31.1-42.11(chr1:187143981-224299417)x3	LOC129932539, LOC129932540 +1148 more	Copy number gain	See cases	GPathogenic

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Links from Gene

Items: 45