29450[HGNC] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58594	GRCh38/hg38 16p13.3-13.13(chr16:23141-11296695)x3	ABAT, ABCA3 +822 more	Copy number gain	See cases	GPathogenic
Select item 150284	GRCh38/hg38 16p13.3-13.12(chr16:43732-13326806)x3	EEF2KMT, ELOB +917 more	Copy number gain	See cases	GPathogenic
Select item 144298	GRCh38/hg38 16p13.3-13.13(chr16:46766-11525516)x3	ABAT, ABCA3 +843 more	Copy number gain	See cases	GPathogenic
Select item 155643	GRCh38/hg38 16p13.3-13.11(chr16:666662-15743104)x3	ABAT, ABCA3 +926 more	Copy number gain	See cases	GPathogenic
Select item 59428	GRCh38/hg38 16p13.3(chr16:2850734-7110697)x1	ADCY9, ALG1 +262 more	Copy number loss	See cases	GPathogenic
Select item 1684659	NC_000016.10:g.3619617_4448281del	ADCY9, CORO7 +40 more	Deletion	See cases	GPathogenic
Select item 57281	GRCh38/hg38 16p13.3(chr16:3710449-4644951)x3	ADCY9, C16orf96 +54 more	Copy number gain	See cases	GUncertain significance
Select item 154437	GRCh38/hg38 16p13.3(chr16:3726702-4644961)x3	ADCY9, C16orf96 +51 more	Copy number gain	See cases	GPathogenic
Select item 657383	NC_000016.10:g.(?_3727698)_(4802591_?)del	LOC130058360, LOC130058361 +66 more	Deletion	Rubinstein-Taybi syndrome	GPathogenic
Select item 148700	GRCh38/hg38 16p13.3(chr16:3820522-4668347)x1	ADCY9, C16orf96 +49 more	Copy number loss	See cases	GPathogenic
Select item 559402	Single allele	LOC130058361, LOC130058362 +10 more	Deletion	Secondary microcephaly +5 more	GUncertain significance
Select item 1251908	NM_032575.3(GLIS2):c.-66-151T>C	GLIS2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 262084	NM_032575.3(GLIS2):c.-11G>A	GLIS2	Single nucleotide variant (5 prime UTR variant)	Nephronophthisis 7 +2 more	GBenign
Select item 193467	NM_032575.3(GLIS2):c.-9C>G	GLIS2	Single nucleotide variant (5 prime UTR variant)	not provided	GUncertain significance
Select item 193468	NM_032575.3(GLIS2):c.15C>T (p.Asp5=)	GLIS2	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 462721	NM_032575.3(GLIS2):c.18G>A (p.Glu6=)	GLIS2	Single nucleotide variant (synonymous variant)	Nephronophthisis	GLikely benign
Select item 2041482	NM_032575.3(GLIS2):c.51C>G (p.Leu17=)	GLIS2	Single nucleotide variant (synonymous variant)	Nephronophthisis	GLikely benign
Select item 884457	NM_032575.3(GLIS2):c.56C>T (p.Ala19Val)	GLIS2 (A19V)	Single nucleotide variant (missense variant)	Nephronophthisis +1 more	GUncertain significance
Select item 2900055	NM_032575.3(GLIS2):c.57G>A (p.Ala19=)	GLIS2	Single nucleotide variant (synonymous variant)	Nephronophthisis	GLikely benign
Select item 701617	NM_032575.3(GLIS2):c.57G>T (p.Ala19=)	GLIS2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 215539	NM_032575.3(GLIS2):c.70C>A (p.Arg24=)	GLIS2	Single nucleotide variant (synonymous variant)	Nephronophthisis +3 more	GBenign/Likely benign
Select item 2388431	NM_032575.3(GLIS2):c.71G>A (p.Arg24Gln)	GLIS2 (R24Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2527402	NM_032575.3(GLIS2):c.80C>T (p.Thr27Met)	GLIS2 (T27M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1416713	NM_032575.3(GLIS2):c.100C>T (p.Arg34Cys)	GLIS2 (R34C)	Single nucleotide variant (missense variant)	Nephronophthisis	GUncertain significance
Select item 568178	NM_032575.3(GLIS2):c.101G>A (p.Arg34His)	GLIS2 (R34H)	Single nucleotide variant (missense variant)	Nephronophthisis +1 more	GUncertain significance
Select item 2708919	NM_032575.3(GLIS2):c.126G>A (p.Leu42=)	GLIS2	Single nucleotide variant (synonymous variant)	Nephronophthisis	GLikely benign
Select item 319208	NM_032575.3(GLIS2):c.127G>A (p.Val43Met)	GLIS2 (V43M)	Single nucleotide variant (missense variant)	Nephronophthisis 7	GUncertain significance
Select item 2896498	NM_032575.3(GLIS2):c.129G>A (p.Val43=)	GLIS2	Single nucleotide variant (synonymous variant)	Nephronophthisis	GLikely benign
Select item 1430984	NM_032575.3(GLIS2):c.164C>T (p.Pro55Leu)	GLIS2 (P55L)	Single nucleotide variant (missense variant)	Nephronophthisis	GUncertain significance
Select item 1896356	NM_032575.3(GLIS2):c.165G>A (p.Pro55=)	GLIS2	Single nucleotide variant (synonymous variant)	Nephronophthisis	GLikely benign
Select item 2159126	NM_032575.3(GLIS2):c.172+14G>A	GLIS2	Single nucleotide variant (intron variant)	Nephronophthisis	GLikely benign
Select item 1222950	NM_032575.3(GLIS2):c.172+154T>G	GLIS2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1266490	NM_032575.3(GLIS2):c.172+200G>T	GLIS2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2186069	NM_032575.3(GLIS2):c.173-17C>G	GLIS2	Single nucleotide variant (intron variant)	Nephronophthisis	GLikely benign
Select item 2761979	NM_032575.3(GLIS2):c.173-16T>C	GLIS2	Single nucleotide variant (intron variant)	Nephronophthisis	GBenign
Select item 2963860	NM_032575.3(GLIS2):c.195C>T (p.Phe65=)	GLIS2	Single nucleotide variant (synonymous variant)	Nephronophthisis	GLikely benign
Select item 319209	NM_032575.3(GLIS2):c.210G>A (p.Glu70=)	GLIS2	Single nucleotide variant (synonymous variant)	Nephronophthisis 7	GUncertain significance
Select item 2470450	NM_032575.3(GLIS2):c.215G>A (p.Arg72His)	GLIS2 (R72H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2225957	NM_032575.3(GLIS2):c.217T>C (p.Phe73Leu)	GLIS2 (F73L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 262085	NM_032575.3(GLIS2):c.223G>T (p.Ala75Ser)	GLIS2 (A75S)	Single nucleotide variant (missense variant)	not specified +4 more	GBenign
Select item 976521	NM_032575.3(GLIS2):c.234C>G (p.Leu78=)	GLIS2	Single nucleotide variant (synonymous variant)	Nephronophthisis 7 +1 more	GLikely benign
Select item 195389	NM_032575.3(GLIS2):c.239A>T (p.Asp80Val)	GLIS2 (D80V)	Single nucleotide variant (missense variant)	Nephronophthisis 7 +3 more	GConflicting classifications of pathogenicity
Select item 2806680	NM_032575.3(GLIS2):c.255A>G (p.Pro85=)	GLIS2	Single nucleotide variant (synonymous variant)	Nephronophthisis	GLikely benign
Select item 2272808	NM_032575.3(GLIS2):c.265C>A (p.Leu89Met)	GLIS2 (L89M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1706240	NM_032575.3(GLIS2):c.274C>T (p.Pro92Ser)	GLIS2 (P92S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2244525	NM_032575.3(GLIS2):c.275C>T (p.Pro92Leu)	GLIS2 (P92L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2070428	NM_032575.3(GLIS2):c.278A>G (p.Asn93Ser)	GLIS2 (N93S)	Single nucleotide variant (missense variant)	Nephronophthisis	GUncertain significance
Select item 3281600	NM_032575.3(GLIS2):c.290C>T (p.Ser97Leu)	GLIS2 (S97L)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 319210	NM_032575.3(GLIS2):c.291G>A (p.Ser97=)	GLIS2	Single nucleotide variant (synonymous variant)	Nephronophthisis 7 +1 more	GConflicting classifications of pathogenicity
Select item 1518508	NM_032575.3(GLIS2):c.304C>T (p.Arg102Cys)	GLIS2 (R102C)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 3281599	NM_032575.3(GLIS2):c.316G>A (p.Gly106Arg)	GLIS2 (G106R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3100262	NM_032575.3(GLIS2):c.328C>T (p.Pro110Ser)	GLIS2 (P110S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 319211	NM_032575.3(GLIS2):c.344C>T (p.Ser115Leu)	GLIS2 (S115L)	Single nucleotide variant (missense variant)	Nephronophthisis 7	GUncertain significance
Select item 1197845	NM_032575.3(GLIS2):c.346-192C>T	GLIS2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2905154	NM_032575.3(GLIS2):c.346-18C>T	GLIS2	Single nucleotide variant (intron variant)	Nephronophthisis	GLikely benign
Select item 1575732	NM_032575.3(GLIS2):c.346-9G>A	GLIS2	Single nucleotide variant (intron variant)	Nephronophthisis	GLikely benign
Select item 885386	NM_032575.3(GLIS2):c.346-4C>G	GLIS2	Single nucleotide variant (intron variant)	Nephronophthisis 7	GUncertain significance
Select item 2240712	NM_032575.3(GLIS2):c.361C>T (p.Arg121Cys)	GLIS2 (R121C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2723249	NM_032575.3(GLIS2):c.362G>A (p.Arg121His)	GLIS2 (R121H)	Single nucleotide variant (missense variant)	Nephronophthisis	GUncertain significance
Select item 3350248	NM_032575.3(GLIS2):c.408C>T (p.Leu136=)	GLIS2	Single nucleotide variant (synonymous variant)	GLIS2-related disorder	GLikely benign
Select item 2237876	NM_032575.3(GLIS2):c.409G>A (p.Gly137Ser)	GLIS2 (G137S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 700590	NM_032575.3(GLIS2):c.414C>T (p.Ser138=)	GLIS2	Single nucleotide variant (synonymous variant)	Nephronophthisis	GLikely benign
Select item 241705	NM_032575.3(GLIS2):c.415G>A (p.Gly139Arg)	GLIS2 (G139R)	Single nucleotide variant (missense variant)	Nephronophthisis +1 more	GBenign
Select item 885387	NM_032575.3(GLIS2):c.476C>T (p.Ser159Leu)	GLIS2 (S159L)	Single nucleotide variant (missense variant)	Nephronophthisis 7 +2 more	GUncertain significance
Select item 697095	NM_032575.3(GLIS2):c.477G>A (p.Ser159=)	GLIS2	Single nucleotide variant (synonymous variant)	Nephronophthisis 7 +1 more	GBenign/Likely benign
Select item 885388	NM_032575.3(GLIS2):c.479C>G (p.Pro160Arg)	GLIS2 (P160R)	Single nucleotide variant (missense variant)	Nephronophthisis 7 +1 more	GUncertain significance
Select item 1946281	NM_032575.3(GLIS2):c.484C>T (p.Leu162=)	GLIS2	Single nucleotide variant (synonymous variant)	Nephronophthisis	GLikely benign
Select item 700318	NM_032575.3(GLIS2):c.498G>A (p.Lys166=)	GLIS2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 319212	NM_032575.3(GLIS2):c.505G>A (p.Val169Met)	GLIS2 (V169M)	Single nucleotide variant (missense variant)	Nephronophthisis 7 +1 more	GUncertain significance
Select item 2007065	NM_032575.3(GLIS2):c.512G>A (p.Arg171His)	GLIS2 (R171H)	Single nucleotide variant (missense variant)	Nephronophthisis	GUncertain significance
Select item 196569	NM_032575.3(GLIS2):c.522+10G>A	GLIS2	Single nucleotide variant (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2082530	NM_032575.3(GLIS2):c.522+11G>A	GLIS2	Single nucleotide variant (intron variant)	Nephronophthisis	GLikely benign
Select item 2056957	NM_032575.3(GLIS2):c.523-20A>T	GLIS2	Single nucleotide variant (intron variant)	Nephronophthisis	GBenign
Select item 885389	NM_032575.3(GLIS2):c.523-9C>T	GLIS2	Single nucleotide variant (intron variant)	Nephronophthisis 7	GUncertain significance
Select item 3100263	NM_032575.3(GLIS2):c.523-2A>G	GLIS2	Single nucleotide variant (splice acceptor variant)	not specified	GUncertain significance
Select item 127160	NM_032575.3(GLIS2):c.523T>C (p.Cys175Arg)	GLIS2 (C175R)	Single nucleotide variant (missense variant)	Nephronophthisis 7	GPathogenic
Select item 887478	NM_032575.3(GLIS2):c.546G>A (p.Leu182=)	GLIS2	Single nucleotide variant (synonymous variant)	Nephronophthisis 7	GUncertain significance
Select item 2305032	NM_032575.3(GLIS2):c.560A>T (p.Asp187Val)	GLIS2 (D187V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1299703	NM_032575.3(GLIS2):c.570_584del (p.Asn190_Val194del)	GLIS2	Deletion (inframe_deletion)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2347660	NM_032575.3(GLIS2):c.568A>G (p.Asn190Asp)	GLIS2 (N190D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2635381	NM_032575.3(GLIS2):c.571G>A (p.Asp191Asn)	GLIS2 (D191N)	Single nucleotide variant (missense variant)	GLIS2-related disorder	GUncertain significance
Select item 2892137	NM_032575.3(GLIS2):c.579T>C (p.His193=)	GLIS2	Single nucleotide variant (synonymous variant)	Nephronophthisis	GLikely benign
Select item 704928	NM_032575.3(GLIS2):c.588C>T (p.Pro196=)	GLIS2	Single nucleotide variant (synonymous variant)	Nephronophthisis	GLikely benign
Select item 3100264	NM_032575.3(GLIS2):c.589G>A (p.Glu197Lys)	GLIS2 (E197K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2085480	NM_032575.3(GLIS2):c.600G>A (p.Ala200=)	GLIS2	Single nucleotide variant (synonymous variant)	Nephronophthisis	GLikely benign
Select item 1529979	NM_032575.3(GLIS2):c.600G>C (p.Ala200=)	GLIS2	Single nucleotide variant (synonymous variant)	Nephronophthisis	GLikely benign
Select item 1975033	NM_032575.3(GLIS2):c.608G>A (p.Cys203Tyr)	GLIS2 (C203Y)	Single nucleotide variant (missense variant)	Nephronophthisis	GUncertain significance
Select item 2378151	NM_032575.3(GLIS2):c.614A>T (p.His205Leu)	GLIS2 (H205L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 416611	NM_032575.3(GLIS2):c.627C>T (p.Cys209=)	GLIS2	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 2047699	NM_032575.3(GLIS2):c.628G>A (p.Ala210Thr)	GLIS2 (A210T)	Single nucleotide variant (missense variant)	Nephronophthisis	GUncertain significance
Select item 319213	NM_032575.3(GLIS2):c.651C>T (p.Asn217=)	GLIS2	Single nucleotide variant (synonymous variant)	Nephronophthisis 7	GUncertain significance
Select item 3051117	NM_032575.3(GLIS2):c.656+8G>C	GLIS2	Single nucleotide variant (intron variant)	GLIS2-related disorder	GLikely benign
Select item 2956720	NM_032575.3(GLIS2):c.656+12GA[2]	GLIS2	Microsatellite (intron variant)	Nephronophthisis	GLikely benign
Select item 2055070	NM_032575.3(GLIS2):c.657-17C>T	GLIS2	Single nucleotide variant (intron variant)	Nephronophthisis	GBenign
Select item 1547922	NM_032575.3(GLIS2):c.657-16G>A	GLIS2	Single nucleotide variant (intron variant)	Nephronophthisis	GLikely benign
Select item 282353	NM_032575.3(GLIS2):c.693C>T (p.Asn231=)	GLIS2	Single nucleotide variant (synonymous variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 1441032	NM_032575.3(GLIS2):c.706C>T (p.Arg236Cys)	GLIS2 (R236C)	Single nucleotide variant (missense variant)	Nephronophthisis	GUncertain significance
Select item 2889456	NM_032575.3(GLIS2):c.714G>A (p.Pro238=)	GLIS2	Single nucleotide variant (synonymous variant)	Nephronophthisis	GLikely benign
Select item 319214	NM_032575.3(GLIS2):c.747C>T (p.Asn249=)	GLIS2	Single nucleotide variant (synonymous variant)	Nephronophthisis 7	GUncertain significance
Select item 591353	NM_032575.3(GLIS2):c.751A>T (p.Lys251Ter)	GLIS2 (K251*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance

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