NUDCD2[gene] - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 32

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58118	GRCh38/hg38 5q32-35.3(chr5:149714592-181272151)x3	LOC132089226, LOC132089227 +1167 more	Copy number gain	See cases	GPathogenic
Select item 149231	GRCh38/hg38 5q33.1-34(chr5:152443869-166104392)x1	ADAM19, ADRA1B +295 more	Copy number loss	See cases	GPathogenic
Select item 58390	GRCh38/hg38 5q33.1-34(chr5:152761187-167248053)x1	ADAM19, ADRA1B +280 more	Copy number loss	See cases	GPathogenic
Select item 144365	GRCh38/hg38 5q33.3-35.3(chr5:156825512-181269805)x3	LOC129995440, LOC129995441 +864 more	Copy number gain	See cases	GPathogenic
Select item 1707452	Single allele	ADRA1B, ATP10B +111 more	Duplication	not specified	GUncertain significance
Select item 149967	GRCh38/hg38 5q33.3-34(chr5:158941354-164386760)x1	GABRA1, GABRA6 +108 more	Copy number loss	See cases	GPathogenic
Select item 58393	GRCh38/hg38 5q34(chr5:161909955-164086917)x1	CCNG1, GABRG2 +17 more	Copy number loss	See cases	GPathogenic
Select item 2539865	NM_145266.6(NUDCD2):c.467A>C (p.Glu156Ala)	CCNG1, NUDCD2 (E156A +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3202747	NM_145266.6(NUDCD2):c.436A>G (p.Thr146Ala)	CCNG1, NUDCD2 (T146A +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2391267	NM_145266.6(NUDCD2):c.310C>G (p.Leu104Val)	CCNG1, NUDCD2 (L104V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2407691	NM_145266.6(NUDCD2):c.252G>A (p.Met84Ile)	CCNG1, NUDCD2 (M84I +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3202746	NM_145266.6(NUDCD2):c.184C>T (p.Leu62Phe)	LOC129995199, NUDCD2 (L62F)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2512989	NM_145266.6(NUDCD2):c.149G>A (p.Arg50Gln)	LOC129995199, NUDCD2 (R50Q)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 3202745	NM_145266.6(NUDCD2):c.148C>G (p.Arg50Gly)	LOC129995199, NUDCD2 (R50G)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 3202744	NM_145266.6(NUDCD2):c.139C>T (p.Leu47Phe)	LOC129995199, NUDCD2 (L47F)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 3301365	NM_145266.6(NUDCD2):c.107C>T (p.Pro36Leu)	LOC129995199, NUDCD2 (P36L)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2562204	NM_145266.6(NUDCD2):c.31G>A (p.Val11Met)	LOC129995199, NUDCD2 (V11M)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2380567	NM_145266.6(NUDCD2):c.29G>A (p.Gly10Glu)	LOC129995199, NUDCD2 (G10E)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 1879644	GRCh37/hg19 5q33.3-34(chr5:156786013-162945369)x1	PTTG1, UBLCP1 +29 more	Copy number loss	not provided	GLikely pathogenic
Select item 1808662	GRCh37/hg19 5q33.1-35.2(chr5:150535183-172906793)x3	ADAM19, ADRA1B +98 more	Copy number gain	not provided	GPathogenic
Select item 1703528	GRCh37/hg19 5q32-35.3(chr5:149010383-180719789)	ADAM19, ADAMTS2 +222 more	Copy number gain	Hunter-McAlpine craniosynostosis	GPathogenic
Select item 929325	GRCh37/hg19 5q34(chr5:161880996-162958461)x3	CCNG1, HMMR +2 more	Copy number gain	See cases	GUncertain significance
Select item 814756	GRCh37/hg19 5q33.3-35.1(chr5:156347980-169959880)x1	ADAM19, ADRA1B +51 more	Copy number loss	not provided	GPathogenic
Select item 686758	GRCh37/hg19 5q34(chr5:162636748-163072415)x1	CCNG1, HMMR +2 more	Copy number loss	not provided	GUncertain significance
Select item 684880	GRCh37/hg19 5q33.3-35.1(chr5:156597181-171166353)x3	C5orf52, ADAM19 +51 more	Copy number gain	not provided	GPathogenic
Select item 563120	GRCh37/hg19 5q34(chr5:161650030-164111161)x3	HMMR, MAT2B +2 more	Copy number gain	not provided	GUncertain significance
Select item 442431	GRCh37/hg19 5p15.1-q35.2(chr5:17628741-176575720)x1	DHFR, DHX29 +738 more	Copy number loss	See cases	GPathogenic
Select item 441920	GRCh37/hg19 5p15.33-q35.3(chr5:113577-180719789)	ABLIM3, ACOT12 +870 more	Copy number gain	See cases	GPathogenic
Select item 441919	GRCh37/hg19 5p15.33-q35.3(chr5:113577-180719789)x3	ABLIM3, ACOT12 +870 more	Copy number gain	See cases	GPathogenic
Select item 425542	GRCh37/hg19 5q15-35.3(chr5:94844077-178830410)x3	ARL10, ARL14EPL +511 more	Copy number gain	not provided	GLikely benign
Select item 394550	GRCh37/hg19 5q21.3-35.3(chr5:106716357-180687338)x3	HRH2, HSD17B4 +520 more	Copy number gain	See cases	GPathogenic
Select item 253504	GRCh37/hg19 5q33.2-35.1(chr5:154886174-169757448)x1	ADAM19, ADRA1B +50 more	Copy number loss	See cases	GPathogenic

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Search results

Items: 32