ClinVar for Gene (Select 30850) - ClinVar

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Links from Gene

Items: 44

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3265605	NM_014603.3(CDR2L):c.602C>A (p.Ala201Glu)	CDR2L (A201E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3265604	NM_014603.3(CDR2L):c.527T>A (p.Leu176Gln)	CDR2L (L176Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3265602	NM_014603.3(CDR2L):c.1205G>A (p.Arg402His)	CDR2L (R402H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3265601	NM_014603.3(CDR2L):c.505C>T (p.Arg169Trp)	CDR2L (R169W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3141712	NM_014603.3(CDR2L):c.821C>A (p.Ala274Asp)	CDR2L (A274D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3141710	NM_014603.3(CDR2L):c.436C>T (p.Arg146Trp)	CDR2L (R146W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3141709	NM_014603.3(CDR2L):c.140G>T (p.Gly47Val)	CDR2L (G47V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3141707	NM_014603.3(CDR2L):c.1220G>A (p.Gly407Asp)	CDR2L (G407D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3141706	NM_014603.3(CDR2L):c.1002C>G (p.His334Gln)	CDR2L (H334Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3063507	GRCh37/hg19 17q25.1(chr17:72875847-73484159)x3	ARMC7, ATP5PD +19 more	Copy number gain	not specified	GUncertain significance
Select item 2621677	NM_014603.3(CDR2L):c.457C>T (p.Arg153Cys)	CDR2L (R153C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2619283	NM_014603.3(CDR2L):c.143C>T (p.Ser48Phe)	CDR2L (S48F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2611724	NM_014603.3(CDR2L):c.997C>T (p.Arg333Trp)	CDR2L (R333W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2602012	NM_014603.3(CDR2L):c.467A>T (p.His156Leu)	CDR2L (H156L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2578017	GRCh37/hg19 17q25.1(chr17:72718277-74142256)	ACOX1, ARMC7 +52 more	Copy number gain	7q11.23 microduplication syndrome	GPathogenic
Select item 2558582	NM_014603.3(CDR2L):c.1364A>G (p.Asn455Ser)	CDR2L (N455S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2526524	NM_014603.3(CDR2L):c.940C>T (p.Arg314Cys)	CDR2L (R314C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2498731	GRCh37/hg19 17q25.1(chr17:72864876-73328878)x1	ARMC7, ATP5PD +19 more	Copy number loss	not provided	GUncertain significance
Select item 2491595	NM_014603.3(CDR2L):c.437G>A (p.Arg146Gln)	CDR2L (R146Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2410787	NM_014603.3(CDR2L):c.1124G>A (p.Arg375Gln)	CDR2L (R375Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2323202	NM_014603.3(CDR2L):c.1161G>C (p.Gln387His)	CDR2L (Q387H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2319568	NM_014603.3(CDR2L):c.664G>A (p.Ala222Thr)	CDR2L (A222T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2315172	NM_014603.3(CDR2L):c.221G>A (p.Arg74Gln)	CDR2L (R74Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2280272	NM_014603.3(CDR2L):c.771G>A (p.Met257Ile)	CDR2L (M257I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2278072	NM_014603.3(CDR2L):c.541C>G (p.Leu181Val)	CDR2L (L181V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2267796	NM_014603.3(CDR2L):c.452G>A (p.Arg151His)	CDR2L (R151H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2266669	NM_014603.3(CDR2L):c.13G>T (p.Ala5Ser)	CDR2L (A5S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2240960	NM_014603.3(CDR2L):c.301C>A (p.Leu101Met)	CDR2L (L101M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2223290	NM_014603.3(CDR2L):c.52T>C (p.Trp18Arg)	CDR2L (W18R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2210221	NM_014603.3(CDR2L):c.1282C>T (p.Arg428Trp)	CDR2L (R428W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 815951	GRCh37/hg19 17q25.1(chr17:72945415-73414786)x3	ARMC7, ATP5PD +15 more	Copy number gain	not provided	GUncertain significance
Select item 689209	GRCh37/hg19 17q24.1-25.3(chr17:62778720-81041938)x3	AANAT, AATK +226 more	Copy number gain	not provided	GPathogenic
Select item 625759	GRCh37/hg19 17q24.3-25.1(chr17:70720436-73175266)	BTBD17, ARMC7 +40 more	Copy number gain	not provided	GPathogenic
Select item 624519	GRCh37/hg19 17q24.1-25.2(chr17:64159738-74891024)x3	LLGL2, MAP2K6 +119 more	Copy number gain	not provided	GLikely pathogenic
Select item 564471	GRCh37/hg19 17q25.1(chr17:72962625-73281784)x3	ARMC7, ATP5PD +13 more	Copy number gain	not provided	GUncertain significance
Select item 564463	GRCh37/hg19 17q24.1-25.3(chr17:63689671-81041938)x3	AANAT, AATK +222 more	Copy number gain	not provided	GPathogenic
Select item 493579	GRCh37/hg19 17q25.1(chr17:72901452-73518861)x3	ARMC7, ATP5PD +20 more	Copy number gain	not provided	GUncertain significance
Select item 443488	GRCh37/hg19 17q24.2-25.3(chr17:67002415-81041938)x3	AANAT, AATK +202 more	Copy number gain	See cases	GPathogenic
Select item 441816	GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)x3	ALOX12, ALOX12B +1143 more	Copy number gain	See cases	GPathogenic
Select item 441815	GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)	SPEM2, TBCD +1143 more	Copy number gain	See cases	GPathogenic
Select item 395646	GRCh37/hg19 17q21.31-25.3(chr17:42580684-81085615)x3	AANAT, AATK +458 more	Copy number gain	See cases	GPathogenic
Select item 155275	GRCh38/hg38 17q24.3-25.3(chr17:69916435-83102552)x3	AANAT, AATK +1013 more	Copy number gain	See cases	GPathogenic
Select item 148363	GRCh38/hg38 17q23.1-25.1(chr17:36449220-75053130)x3	AARSD1, AATF +2032 more	Copy number gain	See cases	GPathogenic
Select item 58703	GRCh38/hg38 17q24.3-25.3(chr17:69209079-83086677)x3	MIR636, MIR6516 +1033 more	Copy number gain	See cases	GPathogenic

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Links from Gene

Items: 44