PODN[gene] - ClinVar

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Items: 60

	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	ACOT11, AK4 +421 more	Copy number gain	See cases	GLikely pathogenic
Select item 3216158	NM_153703.5(PODN):c.-116A>G	PODN	Single nucleotide variant (5 prime UTR variant)	not specified	GUncertain significance
Select item 3216161	NM_153703.5(PODN):c.-58C>G	PODN	Single nucleotide variant (5 prime UTR variant)	not specified	GUncertain significance
Select item 2456675	NM_153703.5(PODN):c.-38G>A	PODN	Single nucleotide variant (5 prime UTR variant)	not specified	GUncertain significance
Select item 3216154	NM_153703.5(PODN):c.1A>G (p.Met1Val)	PODN (M1V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3216155	NM_153703.5(PODN):c.13C>T (p.Arg5Trp)	PODN (R5W)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3216156	NM_153703.5(PODN):c.14G>T (p.Arg5Leu)	PODN (R5L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2508848	NM_153703.5(PODN):c.149C>T (p.Pro50Leu)	PODN (P50L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2219410	NM_153703.5(PODN):c.152T>G (p.Val51Gly)	PODN (V51G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2219809	NM_153703.5(PODN):c.209G>A (p.Arg70Gln)	PODN (R70Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3216159	NM_153703.5(PODN):c.235G>A (p.Val79Ile)	PODN (V79I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2469633	NM_153703.5(PODN):c.239T>C (p.Val80Ala)	PODN (V80A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2209471	NM_153703.5(PODN):c.272C>T (p.Pro91Leu)	PODN (P91L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2489096	NM_153703.5(PODN):c.328A>G (p.Lys110Glu)	PODN (K110E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2356207	NM_153703.5(PODN):c.345G>C (p.Glu115Asp)	PODN (E115D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2513085	NM_153703.5(PODN):c.368A>T (p.Glu123Val)	PODN (E123V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2316303	NM_153703.5(PODN):c.430C>T (p.His144Tyr)	PODN (H144Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3216160	NM_153703.5(PODN):c.485C>A (p.Pro162His)	PODN (P162H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2389827	NM_153703.5(PODN):c.664C>T (p.Leu222Phe)	PODN (L222F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2357944	NM_153703.5(PODN):c.718C>A (p.Leu240Met)	PODN (L240M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3216162	NM_153703.5(PODN):c.764C>T (p.Pro255Leu)	PODN (P255L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3216163	NM_153703.5(PODN):c.793C>T (p.Arg265Cys)	PODN (R265C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2463769	NM_153703.5(PODN):c.964C>T (p.Arg322Trp)	PODN (R322W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2490159	NM_153703.5(PODN):c.988A>G (p.Thr330Ala)	PODN (T330A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2222530	NM_153703.5(PODN):c.998G>A (p.Arg333His)	PODN (R333H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3216150	NM_153703.5(PODN):c.1032G>C (p.Gln344His)	PODN (Q344H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3216151	NM_153703.5(PODN):c.1036C>T (p.Arg346Trp)	PODN (R346W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2308870	NM_153703.5(PODN):c.1048A>G (p.Ile350Val)	PODN (I350V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 161564	NM_153703.5(PODN):c.1060G>T (p.Ala354Ser)	PODN (A354S)	Single nucleotide variant (missense variant)	Malignant tumor of prostate	GUncertain significance
Select item 2359314	NM_153703.5(PODN):c.1067A>G (p.Gln356Arg)	PODN (Q356R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3216152	NM_153703.5(PODN):c.1138C>T (p.Arg380Cys)	PODN (R380C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2534479	NM_153703.5(PODN):c.1255C>G (p.Pro419Ala)	PODN (P419A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2342147	NM_153703.5(PODN):c.1256C>G (p.Pro419Arg)	PODN (P419R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2217021	NM_153703.5(PODN):c.1267C>T (p.Arg423Cys)	PODN (R423C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2400112	NM_153703.5(PODN):c.1268G>A (p.Arg423His)	PODN (R423H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2271629	NM_153703.5(PODN):c.1289G>A (p.Arg430His)	PODN (R430H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2455575	NM_153703.5(PODN):c.1298G>A (p.Arg433His)	PODN (R433H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2355750	NM_153703.5(PODN):c.1322G>A (p.Arg441Gln)	PODN (R441Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2599780	NM_153703.5(PODN):c.1403G>A (p.Arg468Gln)	PODN (R468Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2348876	NM_153703.5(PODN):c.1432C>T (p.Arg478Cys)	PODN (R478C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2638819	NM_153703.5(PODN):c.1484G>A (p.Arg495His)	PODN (R495H)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2638820	NM_153703.5(PODN):c.1500C>T (p.Leu500=)	PODN	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2242949	NM_153703.5(PODN):c.1501G>A (p.Ala501Thr)	PODN (A501T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2240981	NM_153703.5(PODN):c.1615G>A (p.Ala539Thr)	PODN (A539T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2596166	NM_153703.5(PODN):c.1655T>C (p.Phe552Ser)	PODN (F552S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2457670	NM_153703.5(PODN):c.1706G>A (p.Arg569Gln)	PODN (R569Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2507477	NM_153703.5(PODN):c.1715A>T (p.Lys572Met)	PODN (K572M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2532945	NM_153703.5(PODN):c.1726G>A (p.Val576Ile)	PODN (V576I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3216157	NM_153703.5(PODN):c.1736T>C (p.Ile579Thr)	PODN (I579T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2515481	NM_153703.5(PODN):c.1775G>A (p.Arg592His)	PODN (R592H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 814082	GRCh37/hg19 1p32.3(chr1:53039602-53734721)x3	SLC1A7, MAGOH +11 more	Copy number gain	not provided	GLikely benign
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 443438	GRCh37/hg19 1p32.3(chr1:53370010-54017544)x3	CPT2, CZIB +8 more	Copy number gain	See cases	GUncertain significance
Select item 442387	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)	BCAS2, CNTN2 +2014 more	Copy number gain	See cases	GPathogenic
Select item 442386	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3	FAM76A, FAM78B +2014 more	Copy number gain	See cases	GPathogenic
Select item 394094	GRCh37/hg19 1p32.3(chr1:51729573-55164001)x1	LRP8, LRRC42 +42 more	Copy number loss	See cases	GPathogenic

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Items: 60