diauxic growth - ClinVar - NCBI

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The following term was not found in ClinVar: diauxic.

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58244	GRCh38/hg38 1p36.33-36.31(chr1:629044-7008678)x1	LOC129929262, LOC129929263 +458 more	Copy number loss	See cases	GPathogenic
Select item 58314	GRCh38/hg38 1p36.33-36.32(chr1:872305-4133409)x1	ACAP3, ACTRT2 +320 more	Copy number loss	See cases	GPathogenic
Select item 1696697	NM_002074.5(GNB1):c.*1316G>C	GNB1	Single nucleotide variant (3 prime UTR variant)	Intellectual disability, autosomal dominant 42	GUncertain significance
Select item 1687407	NM_002074.5(GNB1):c.1007T>A (p.Leu336His)	GNB1 (L236H +1 more)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 42	GUncertain significance
Select item 224718	NM_002074.5(GNB1):c.976G>A (p.Ala326Thr)	GNB1 (A326T +1 more)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 42	GLikely pathogenic
Select item 2432202	NM_002074.5(GNB1):c.955G>C (p.Gly319Arg)	GNB1 (G219R +1 more)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 42	GUncertain significance
Select item 1315579	NM_002074.5(GNB1):c.917-1G>T	GNB1	Single nucleotide variant (splice acceptor variant)	Intellectual disability, autosomal dominant 42	GPathogenic
Select item 1315578	NM_002074.5(GNB1):c.915_916del (p.Gly306fs)	GNB1 (G206fs +1 more)	Deletion (frameshift variant)	Intellectual disability, autosomal dominant 42	GPathogenic
Select item 3024332	NM_002074.5(GNB1):c.814G>A (p.Gly272Arg)	GNB1 (G172R +1 more)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 42 +2 more	GLikely pathogenic
Select item 995963	NM_002074.5(GNB1):c.727A>G (p.Thr243Ala)	GNB1 (T143A +1 more)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 42	Gnot provided
Select item 1033473	NM_002074.5(GNB1):c.520G>A (p.Gly174Ser)	GNB1 (G74S +1 more)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 42 +1 more	GConflicting classifications of pathogenicity
Select item 1048759	NM_002074.5(GNB1):c.496T>C (p.Cys166Arg)	GNB1 (C166R +1 more)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 42	GLikely pathogenic
Select item 1285499	NM_002074.5(GNB1):c.487G>A (p.Asp163Asn)	GNB1 (D163N +1 more)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 42 +1 more	GConflicting classifications of pathogenicity
Select item 775489	NM_002074.5(GNB1):c.462C>T (p.Asp154=)	GNB1	Single nucleotide variant (synonymous variant)	not provided +3 more	GBenign/Likely benign
Select item 1696698	NM_002074.5(GNB1):c.431-4668T>C	GNB1	Single nucleotide variant (intron variant)	Intellectual disability, autosomal dominant 42	GUncertain significance
Select item 1562666	NM_002074.5(GNB1):c.402C>T (p.Arg134=)	GNB1	Single nucleotide variant (synonymous variant)	not provided +3 more	GLikely benign
Select item 452797	NM_002074.5(GNB1):c.388G>A (p.Glu130Lys)	GNB1 (E130K +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic
Select item 521213	NM_002074.5(GNB1):c.353A>G (p.Asp118Gly)	GNB1 (D118G +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GPathogenic
Select item 812755	NM_002074.5(GNB1):c.352G>T (p.Asp118Tyr)	GNB1 (D118Y +1 more)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 1315581	NM_002074.5(GNB1):c.341G>A (p.Cys114Tyr)	GNB1 (C114Y +1 more)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 42	GPathogenic
Select item 3066080	NM_002074.5(GNB1):c.332A>G (p.Tyr111Cys)	GNB1 (Y111C +1 more)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 42	GUncertain significance
Select item 1710142	NM_002074.5(GNB1):c.326G>A (p.Gly109Glu)	GNB1 (G109E +1 more)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 42	GLikely pathogenic
Select item 224717	NM_002074.5(GNB1):c.301A>G (p.Met101Val)	GNB1 (M101V +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 3237184	NM_002074.5(GNB1):c.296G>T (p.Trp99Leu)	GNB1 (W99L)	Single nucleotide variant (5 prime UTR variant +1 more)	Intellectual disability, autosomal dominant 42	GLikely pathogenic
Select item 995962	NM_002074.5(GNB1):c.287G>T (p.Arg96Leu)	GNB1 (R96L)	Single nucleotide variant (5 prime UTR variant +1 more)	Intellectual disability, autosomal dominant 42	GPathogenic
Select item 224716	NM_002074.5(GNB1):c.284T>C (p.Leu95Pro)	GNB1 (L95P)	Single nucleotide variant (5 prime UTR variant +1 more)	Microcephaly +2 more	GPathogenic/Likely pathogenic
Select item 2000177	NM_002074.5(GNB1):c.281C>G (p.Pro94Arg)	GNB1 (P94R)	Single nucleotide variant (5 prime UTR variant +1 more)	Intellectual disability, autosomal dominant 42 +1 more	GConflicting classifications of pathogenicity
Select item 976435	NM_002074.5(GNB1):c.280C>T (p.Pro94Ser)	GNB1 (P94S)	Single nucleotide variant (5 prime UTR variant +1 more)	Intellectual disability, autosomal dominant 42 +1 more	GUncertain significance
Select item 1315577	NM_002074.5(GNB1):c.272_275del (p.His91fs)	GNB1 (H91fs)	Deletion (5 prime UTR variant +1 more)	Intellectual disability, autosomal dominant 42	GPathogenic
Select item 633546	NM_002074.5(GNB1):c.274G>A (p.Ala92Thr)	GNB1 (A92T)	Single nucleotide variant (5 prime UTR variant +1 more)	Intellectual disability +2 more	GPathogenic/Likely pathogenic
Select item 1315576	NM_002074.5(GNB1):c.268-1G>T	GNB1	Single nucleotide variant (splice acceptor variant)	Intellectual disability, autosomal dominant 42	GPathogenic
Select item 1032797	NM_002074.5(GNB1):c.267+7A>G	GNB1	Single nucleotide variant (intron variant)	Intellectual disability, autosomal dominant 42 +1 more	GConflicting classifications of pathogenicity
Select item 391609	NM_002074.5(GNB1):c.239T>G (p.Ile80Ser)	GNB1 (I80S)	Single nucleotide variant (5 prime UTR variant +1 more)	Intellectual disability, autosomal dominant 42 +1 more	GPathogenic/Likely pathogenic
Select item 224715	NM_002074.5(GNB1):c.239T>A (p.Ile80Asn)	GNB1 (I80N)	Single nucleotide variant (5 prime UTR variant +1 more)	Acute lymphoid leukemia +2 more	GPathogenic
Select item 208722	NM_002074.5(GNB1):c.239T>C (p.Ile80Thr)	GNB1 (I80T)	Single nucleotide variant (5 prime UTR variant +1 more)	Cerebral palsy +7 more	GPathogenic/Likely pathogenic
Select item 224714	NM_002074.5(GNB1):c.233A>G (p.Lys78Arg)	GNB1 (K78R)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided +3 more	GPathogenic/Likely pathogenic
Select item 1315582	NM_002074.5(GNB1):c.230G>T (p.Gly77Val)	GNB1 (G77V)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GPathogenic
Select item 985590	NM_002074.5(GNB1):c.230G>A (p.Gly77Asp)	GNB1 (G77D)	Single nucleotide variant (5 prime UTR variant +1 more)	Intellectual disability +3 more	GPathogenic/Likely pathogenic
Select item 431082	NM_002074.5(GNB1):c.230G>C (p.Gly77Ala)	GNB1 (G77A)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 1700090	NM_002074.5(GNB1):c.229G>T (p.Gly77Cys)	GNB1 (G77C)	Single nucleotide variant (5 prime UTR variant +1 more)	Neurodevelopmental delay +1 more	GPathogenic
Select item 224713	NM_002074.5(GNB1):c.229G>A (p.Gly77Ser)	GNB1 (G77S)	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases +2 more	GPathogenic/Likely pathogenic
Select item 1699320	NM_002074.5(GNB1):c.228T>A (p.Asp76Glu)	GNB1 (D76E)	Single nucleotide variant (5 prime UTR variant +1 more)	Intellectual disability, autosomal dominant 42	GPathogenic
Select item 224711	NM_002074.5(GNB1):c.227A>G (p.Asp76Gly)	GNB1 (D76G)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GPathogenic
Select item 976696	NM_002074.5(GNB1):c.226G>A (p.Asp76Asn)	GNB1 (D76N)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 2444031	NM_002074.5(GNB1):c.183G>T (p.Met61Ile)	GNB1 (M61I)	Single nucleotide variant (missense variant +1 more)	Intellectual disability, autosomal dominant 42	GLikely pathogenic
Select item 1029408	NM_002074.5(GNB1):c.178G>A (p.Ala60Thr)	GNB1 (A60T)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 617622	NM_002074.5(GNB1):c.158G>A (p.Gly53Glu)	GNB1 (G53E)	Single nucleotide variant (missense variant +1 more)	Intellectual disability, autosomal dominant 42	GLikely pathogenic
Select item 1326280	NM_002074.5(GNB1):c.154C>T (p.Arg52Trp)	GNB1 (R52W)	Single nucleotide variant (missense variant +1 more)	not provided	GConflicting classifications of pathogenicity
Select item 2572418	NM_002074.5(GNB1):c.93_94del (p.Gln32fs)	GNB1 (Q32fs)	Microsatellite (frameshift variant +1 more)	Intellectual disability, autosomal dominant 42	GLikely pathogenic
Select item 638348	NM_002074.5(GNB1):c.34G>A (p.Glu12Lys)	GNB1 (E12K)	Single nucleotide variant (5 prime UTR variant +1 more)	Intellectual disability, autosomal dominant 42 +1 more	GConflicting classifications of pathogenicity
Select item 297781	NM_015102.5(NPHP4):c.*314T>G	NPHP4	Single nucleotide variant (3 prime UTR variant +1 more)	Senior-Loken syndrome 4 +2 more	GBenign
Select item 876727	NM_015102.5(NPHP4):c.*285G>A	NPHP4	Single nucleotide variant (3 prime UTR variant +1 more)	Senior-Loken syndrome 4 +1 more	GUncertain significance
Select item 297782	NM_015102.5(NPHP4):c.*128A>C	NPHP4	Single nucleotide variant (3 prime UTR variant +1 more)	Nephronophthisis 4 +1 more	GBenign
Select item 873895	NM_015102.5(NPHP4):c.*97T>A	NPHP4	Single nucleotide variant (3 prime UTR variant +1 more)	Nephronophthisis 4 +1 more	GUncertain significance
Select item 873896	NM_015102.5(NPHP4):c.*87C>G	NPHP4	Single nucleotide variant (3 prime UTR variant +1 more)	Nephronophthisis 4 +1 more	GUncertain significance
Select item 297783	NM_015102.5(NPHP4):c.*26C>T	NPHP4	Single nucleotide variant (3 prime UTR variant +1 more)	Senior-Loken syndrome 4 +1 more	GUncertain significance
Select item 1948314	NM_015102.5(NPHP4):c.4269C>T (p.Val1423=)	NPHP4	Single nucleotide variant (synonymous variant +1 more)	Nephronophthisis	GLikely benign
Select item 1903077	NM_015102.5(NPHP4):c.4267G>C (p.Val1423Leu)	NPHP4 (V910L +2 more)	Single nucleotide variant (missense variant +1 more)	Nephronophthisis	GUncertain significance
Select item 843518	NM_015102.5(NPHP4):c.4267G>A (p.Val1423Ile)	NPHP4 (V1423I +2 more)	Single nucleotide variant (missense variant +1 more)	Nephronophthisis	GUncertain significance
Select item 1005319	NM_015102.5(NPHP4):c.4261G>A (p.Val1421Met)	NPHP4 (V1421M +2 more)	Single nucleotide variant (missense variant +1 more)	NPHP4-related disorder +3 more	GUncertain significance
Select item 531638	NM_015102.5(NPHP4):c.4260C>T (p.Cys1420=)	NPHP4	Single nucleotide variant (synonymous variant +1 more)	Nephronophthisis	GLikely benign
Select item 2681745	NM_015102.5(NPHP4):c.4237_4249del (p.Asp1413fs)	NPHP4 (D1413fs +2 more)	Deletion (frameshift variant +1 more)	Nephronophthisis 4	GPathogenic
Select item 1386544	NM_015102.5(NPHP4):c.4249G>A (p.Glu1417Lys)	NPHP4 (E1417K +2 more)	Single nucleotide variant (missense variant +1 more)	Nephronophthisis	GUncertain significance
Select item 2056784	NM_015102.5(NPHP4):c.4246G>A (p.Glu1416Lys)	NPHP4 (E903K +2 more)	Single nucleotide variant (missense variant +1 more)	Nephronophthisis	GUncertain significance
Select item 2082279	NM_015102.5(NPHP4):c.4245C>T (p.Asn1415=)	NPHP4	Single nucleotide variant (synonymous variant +1 more)	Nephronophthisis	GLikely benign
Select item 595255	NM_015102.5(NPHP4):c.4239C>G (p.Asp1413Glu)	NPHP4 (D1413E +2 more)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GUncertain significance
Select item 297784	NM_015102.5(NPHP4):c.4237G>A (p.Asp1413Asn)	NPHP4 (D1413N +2 more)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GBenign/Likely benign
Select item 597200	NM_015102.5(NPHP4):c.4233T>C (p.His1411=)	NPHP4	Single nucleotide variant (synonymous variant +1 more)	Nephronophthisis +1 more	GConflicting classifications of pathogenicity
Select item 2182921	NM_015102.5(NPHP4):c.4232A>G (p.His1411Arg)	NPHP4 (H898R +2 more)	Single nucleotide variant (missense variant +1 more)	Nephronophthisis	GUncertain significance
Select item 2110277	NM_015102.5(NPHP4):c.4225A>G (p.Asn1409Asp)	NPHP4 (N1409D +2 more)	Single nucleotide variant (missense variant +1 more)	Nephronophthisis	GUncertain significance
Select item 1018258	NM_015102.5(NPHP4):c.4222A>G (p.Ile1408Val)	NPHP4 (I1408V +2 more)	Single nucleotide variant (missense variant +1 more)	Nephronophthisis	GUncertain significance
Select item 597701	NM_015102.5(NPHP4):c.4221C>T (p.Tyr1407=)	NPHP4	Single nucleotide variant (synonymous variant +1 more)	Nephronophthisis +1 more	GConflicting classifications of pathogenicity
Select item 595291	NM_015102.5(NPHP4):c.4220A>G (p.Tyr1407Cys)	NPHP4 (Y1407C +2 more)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GUncertain significance
Select item 1417313	NM_015102.5(NPHP4):c.4217T>G (p.Ile1406Ser)	NPHP4 (I1406S +2 more)	Single nucleotide variant (missense variant +1 more)	Nephronophthisis	GUncertain significance
Select item 1658802	NM_015102.5(NPHP4):c.4209G>A (p.Glu1403=)	NPHP4	Single nucleotide variant (synonymous variant +1 more)	Nephronophthisis	GLikely benign
Select item 1018521	NM_015102.5(NPHP4):c.4199G>A (p.Gly1400Asp)	NPHP4 (G1400D +2 more)	Single nucleotide variant (missense variant +1 more)	Nephronophthisis	GUncertain significance
Select item 1019523	NM_015102.5(NPHP4):c.4198G>A (p.Gly1400Ser)	NPHP4 (G1400S +2 more)	Single nucleotide variant (missense variant +1 more)	Nephronophthisis	GUncertain significance
Select item 2812382	NM_015102.5(NPHP4):c.4196T>C (p.Val1399Ala)	NPHP4 (V1399A +2 more)	Single nucleotide variant (missense variant +1 more)	Nephronophthisis	GUncertain significance
Select item 1005425	NM_015102.5(NPHP4):c.4195G>A (p.Val1399Met)	NPHP4 (V1399M +2 more)	Single nucleotide variant (missense variant +1 more)	Nephronophthisis	GUncertain significance
Select item 596153	NM_015102.5(NPHP4):c.4182G>A (p.Ala1394=)	NPHP4	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1408463	NM_015102.5(NPHP4):c.4181C>T (p.Ala1394Val)	NPHP4 (A882V +2 more)	Single nucleotide variant (missense variant +1 more)	Nephronophthisis +1 more	GUncertain significance
Select item 95686	NM_015102.5(NPHP4):c.4179T>A (p.Phe1393Leu)	NPHP4 (F1393L +2 more)	Single nucleotide variant (missense variant +1 more)	Nephronophthisis +3 more	GConflicting classifications of pathogenicity
Select item 2145248	NM_015102.5(NPHP4):c.4175A>G (p.Gln1392Arg)	NPHP4 (Q879R +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 1486799	NM_015102.5(NPHP4):c.4172T>A (p.Leu1391Ter)	NPHP4 (L1391* +2 more)	Single nucleotide variant (nonsense +1 more)	Nephronophthisis	GUncertain significance
Select item 1559693	NM_015102.5(NPHP4):c.4167C>T (p.Ile1389=)	NPHP4	Single nucleotide variant (synonymous variant +1 more)	Nephronophthisis 4 +2 more	GLikely benign
Select item 3019406	NM_015102.5(NPHP4):c.4164C>T (p.Thr1388=)	NPHP4	Single nucleotide variant (synonymous variant +1 more)	Nephronophthisis	GLikely benign
Select item 1036868	NM_015102.5(NPHP4):c.4163C>T (p.Thr1388Ile)	NPHP4 (T876I +2 more)	Single nucleotide variant (missense variant +1 more)	Nephronophthisis	GUncertain significance
Select item 1040125	NM_015102.5(NPHP4):c.4157C>A (p.Thr1386Asn)	NPHP4 (T1386N +2 more)	Single nucleotide variant (missense variant +1 more)	Nephronophthisis	GUncertain significance
Select item 2157110	NM_015102.5(NPHP4):c.4146G>A (p.Gly1382=)	NPHP4	Single nucleotide variant (synonymous variant +1 more)	Nephronophthisis	GLikely benign
Select item 196631	NM_015102.5(NPHP4):c.4145G>A (p.Gly1382Glu)	NPHP4 (G1382E +2 more)	Single nucleotide variant (missense variant +1 more)	Nephronophthisis 4 +4 more	GUncertain significance
Select item 1441184	NM_015102.5(NPHP4):c.4144G>A (p.Gly1382Arg)	NPHP4 (G869R +2 more)	Single nucleotide variant (missense variant +1 more)	Nephronophthisis	GUncertain significance
Select item 288025	NM_015102.5(NPHP4):c.4143C>T (p.Val1381=)	NPHP4	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2114320	NM_015102.5(NPHP4):c.4141G>A (p.Val1381Ile)	NPHP4 (V868I +2 more)	Single nucleotide variant (missense variant +1 more)	Nephronophthisis	GUncertain significance
Select item 260560	NM_015102.5(NPHP4):c.4141-11C>T	NPHP4	Single nucleotide variant (intron variant)	Nephronophthisis 4 +2 more	GConflicting classifications of pathogenicity
Select item 2051222	NM_015102.5(NPHP4):c.4141-12G>A	NPHP4	Single nucleotide variant (intron variant)	Nephronophthisis	GLikely benign
Select item 2894756	NM_015102.5(NPHP4):c.4140+16G>A	NPHP4	Single nucleotide variant (intron variant)	Nephronophthisis	GLikely benign
Select item 1622981	NM_015102.5(NPHP4):c.4140+11dup	NPHP4	Duplication (intron variant)	Nephronophthisis	GBenign
Select item 1136281	NM_015102.5(NPHP4):c.4140+12C>T	NPHP4	Single nucleotide variant (intron variant)	Nephronophthisis	GLikely benign
Select item 2992711	NM_015102.5(NPHP4):c.4140+11G>A	NPHP4	Single nucleotide variant (intron variant)	Nephronophthisis	GLikely benign
Select item 2049749	NM_015102.5(NPHP4):c.4140+9G>A	NPHP4	Single nucleotide variant (intron variant)	Nephronophthisis	GUncertain significance

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