NDC1[gene] - ClinVar

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Items: 44

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2672311	Single allele	ARTN, ATP6V0B +1226 more	Inversion	Bilateral polymicrogyria	GLikely pathogenic
Select item 58079	GRCh38/hg38 1p32.3-31.1(chr1:52595352-76767765)x3	LOC129388541, LOC129388542 +570 more	Copy number gain	See cases	GPathogenic
Select item 153325	GRCh38/hg38 1p32.3-31.3(chr1:52787503-67339873)x3	LOC129930559, LOC129930560 +422 more	Copy number gain	See cases	GLikely pathogenic
Select item 150647	GRCh38/hg38 1p32.3-31.3(chr1:53627272-64248854)x1	ACOT11, ALG6 +280 more	Copy number loss	See cases	GPathogenic
Select item 59968	GRCh38/hg38 1p32.3-31.3(chr1:53738212-61439648)x1	ACOT11, BSND +205 more	Copy number loss	See cases	GPathogenic
Select item 2319388	NM_018087.5(NDC1):c.1918A>G (p.Thr640Ala)	NDC1 (T600A +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2333664	NM_018087.5(NDC1):c.1871A>G (p.Asp624Gly)	NDC1 (D624G +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2224187	NM_018087.5(NDC1):c.1868T>A (p.Val623Glu)	NDC1 (V623E +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2409588	NM_018087.5(NDC1):c.1849C>T (p.Arg617Trp)	NDC1 (R617W +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2494127	NM_018087.5(NDC1):c.1804G>A (p.Val602Ile)	NDC1 (V602I +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2537147	NM_018087.5(NDC1):c.1528A>G (p.Lys510Glu)	NDC1 (K510E +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2470381	NM_018087.5(NDC1):c.1408G>A (p.Gly470Arg)	NDC1 (G430R +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2213565	NM_018087.5(NDC1):c.1406A>G (p.Tyr469Cys)	NDC1 (Y429C +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2538062	NM_018087.5(NDC1):c.1336C>A (p.Pro446Thr)	NDC1 (P406T +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2243109	NM_018087.5(NDC1):c.1315T>C (p.Ser439Pro)	NDC1 (S439P +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2409818	NM_018087.5(NDC1):c.1259T>C (p.Met420Thr)	NDC1 (M380T +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2623883	NM_018087.5(NDC1):c.1163C>G (p.Ala388Gly)	NDC1 (A348G +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 619169	NM_018087.5(NDC1):c.1106G>A (p.Cys369Tyr)	NDC1 (C369Y +1 more)	Single nucleotide variant (missense variant +1 more)	Global developmental delay +2 more	GUncertain significance
Select item 2512293	NM_018087.5(NDC1):c.1072C>T (p.His358Tyr)	NDC1 (H358Y +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2320035	NM_018087.5(NDC1):c.1034G>A (p.Arg345Gln)	NDC1 (R305Q +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2396664	NM_018087.5(NDC1):c.974C>G (p.Pro325Arg)	NDC1 (P285R +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2212023	NM_018087.5(NDC1):c.941G>A (p.Cys314Tyr)	NDC1 (C274Y +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2354646	NM_018087.5(NDC1):c.925G>C (p.Glu309Gln)	NDC1 (E309Q +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2210152	NM_018087.5(NDC1):c.896A>T (p.His299Leu)	NDC1 (H259L +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2522322	NM_018087.5(NDC1):c.845C>T (p.Thr282Met)	NDC1 (T242M +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 2483171	NM_018087.5(NDC1):c.638T>G (p.Val213Gly)	NDC1 (V213G +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2546041	NM_018087.5(NDC1):c.622T>A (p.Ser208Thr)	NDC1 (S208T +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 153752	GRCh38/hg38 1p32.3(chr1:53823735-54328113)x3	CDCP2, CYB5RL +27 more	Copy number gain	See cases	GUncertain significance
Select item 2533260	NM_018087.5(NDC1):c.584C>G (p.Pro195Arg)	NDC1 (P155R +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2298642	NM_018087.5(NDC1):c.569A>G (p.Asn190Ser)	NDC1 (N150S +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2327622	NM_018087.5(NDC1):c.423C>A (p.Ser141Arg)	NDC1 (S141R +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2618917	NM_018087.5(NDC1):c.307C>A (p.Leu103Ile)	NDC1 (L103I)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2513857	NM_018087.5(NDC1):c.275A>G (p.Tyr92Cys)	NDC1 (Y92C)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2279511	NM_018087.5(NDC1):c.269A>G (p.Glu90Gly)	NDC1 (E90G)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 788286	NM_018087.5(NDC1):c.127T>C (p.Phe43Leu)	NDC1 (F43L)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 3062755	GRCh37/hg19 1p33-32.2(chr1:47493178-57042671)x3	ACOT11, AGBL4 +72 more	Copy number gain	not specified	GLikely pathogenic
Select item 1047872	GRCh37/hg19 1p32.3-32.2(chr1:51941877-56688514)	CYB5RL, EPS15 +49 more	Copy number loss	Abnormality of the kidney +1 more	GPathogenic
Select item 981205	GRCh37/hg19 1p32.3-31.3(chr1:53675707-66644963)x1	JUN, KANK4 +67 more	Copy number loss	Chromosome 1p32-p31 deletion syndrome	GPathogenic
Select item 814083	GRCh37/hg19 1p32.3(chr1:54168363-54247627)x1	GLIS1, NDC1	Copy number loss	not provided	GUncertain significance
Select item 685398	GRCh37/hg19 1p32.3(chr1:54002963-54575440)x3	DIO1, GLIS1 +7 more	Copy number gain	not provided	GUncertain significance
Select item 635767	GRCh37/hg19 1p36.22-21.1(chr1:103343285-103455144)x3	ANGPTL7, C1orf127 +783 more	Copy number gain	Intellectual disability, mild +1 more	GUncertain significance
Select item 442387	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)	PADI1, PADI2 +2014 more	Copy number gain	See cases	GPathogenic
Select item 442386	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3	NID1, NIPAL3 +2014 more	Copy number gain	See cases	GPathogenic
Select item 394094	GRCh37/hg19 1p32.3(chr1:51729573-55164001)x1	ACOT11, BTF3L4 +42 more	Copy number loss	See cases	GPathogenic

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Items: 44