2096[HGNC] - ClinVar - NCBI

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

Search results

Items: 1 to 100 of 187

<< First< Prev

Page of 2

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 545223	NC_000018.10:g.(?_10000)_(1543845_?)del	ADCYAP1, CETN1 +36 more	Deletion	Autism	GLikely pathogenic
Select item 58716	GRCh38/hg38 18p11.32-11.21(chr18:10001-15380684)x3	ADCYAP1, AFG3L2 +379 more	Copy number gain	See cases	GPathogenic
Select item 152926	GRCh38/hg38 18p11.32-11.21(chr18:14316-14206225)x3	ADCYAP1, AFG3L2 +373 more	Copy number gain	See cases	GPathogenic
Select item 153128	GRCh38/hg38 18p11.32-11.21(chr18:48782-14978076)x1	ADCYAP1, AFG3L2 +378 more	Copy number loss	See cases	GPathogenic
Select item 59612	GRCh38/hg38 18p11.32-11.31(chr18:53344-7029134)x1	ADCYAP1, AKAIN1 +161 more	Copy number loss	See cases	GPathogenic
Select item 58720	GRCh38/hg38 18p11.32-q11.1(chr18:53345-20948503)x3	LINC00668, LINC01254 +379 more	Copy number gain	See cases	GPathogenic
Select item 58718	GRCh38/hg38 18p11.32-q23(chr18:53345-80209986)x3	ABHD3, ACAA2 +1646 more	Copy number gain	See cases	GPathogenic
Select item 152927	GRCh38/hg38 18p11.32-11.31(chr18:85432-7094700)x1	ZBTB14, ADCYAP1 +162 more	Copy number loss	See cases	GPathogenic
Select item 59614	GRCh38/hg38 18p11.32-11.21(chr18:112259-14122522)x1	ADCYAP1, AFG3L2 +368 more	Copy number loss	See cases	GPathogenic
Select item 59613	GRCh38/hg38 18p11.32-11.22(chr18:112259-9135777)x1	ADCYAP1, AKAIN1 +195 more	Copy number loss	See cases	GPathogenic
Select item 155127	GRCh38/hg38 18p11.32-11.21(chr18:118760-12642431)x3	LOC129390958, LOC130062070 +300 more	Copy number gain	See cases	GUncertain significance
Select item 152548	GRCh38/hg38 18p11.32-11.21(chr18:118760-15024003)x1	NDUFV2-AS1, PIEZO2 +374 more	Copy number loss	See cases	GPathogenic
Select item 151983	GRCh38/hg38 18p11.32-11.31(chr18:118760-4470508)x1	ADCYAP1, CETN1 +120 more	Copy number loss	See cases	GPathogenic
Select item 150597	GRCh38/hg38 18p11.32-11.31(chr18:118760-6275718)x1	ADCYAP1, AKAIN1 +145 more	Copy number loss	See cases	GPathogenic
Select item 150126	GRCh38/hg38 18p11.32-11.22(chr18:118760-8999132)x1	ADCYAP1, AKAIN1 +184 more	Copy number loss	See cases	GPathogenic
Select item 149674	GRCh38/hg38 18p11.32-q23(chr18:118760-80254946)x3	LOC126862711, LOC126862712 +1643 more	Copy number gain	See cases	GPathogenic
Select item 148659	GRCh38/hg38 18p11.32-11.31(chr18:118760-4342182)x1	ADCYAP1, CETN1 +118 more	Copy number loss	See cases	GLikely pathogenic
Select item 148383	GRCh38/hg38 18p11.32-11.21(chr18:118760-14089410)x1	LOC130062167, LOC130062168 +367 more	Copy number loss	See cases	GPathogenic
Select item 148382	GRCh38/hg38 18p11.32-11.21(chr18:118760-14089410)x4	LOC125338465, LOC125338466 +367 more	Copy number gain	See cases	GPathogenic
Select item 146636	GRCh38/hg38 18p11.32-11.31(chr18:131500-4421014)x3	ADCYAP1, CETN1 +119 more	Copy number gain	See cases	GPathogenic
Select item 59910	GRCh38/hg38 18p11.32-11.22(chr18:131700-10536767)x1	ADCYAP1, AKAIN1 +237 more	Copy number loss	See cases	GPathogenic
Select item 59617	GRCh38/hg38 18p11.32-11.21(chr18:131700-14226905)x1	LOC130062104, LOC130062105 +368 more	Copy number loss	See cases	GPathogenic
Select item 59616	GRCh38/hg38 18p11.32-11.31(chr18:131700-3279166)x1	ADCYAP1, CETN1 +83 more	Copy number loss	See cases	GPathogenic
Select item 59615	GRCh38/hg38 18p11.32-11.21(chr18:131700-15121055)x1	ADCYAP1, AFG3L2 +374 more	Copy number loss	See cases	GPathogenic
Select item 149042	GRCh38/hg38 18p11.32-11.21(chr18:133157-14089410)x1	ADCYAP1, AFG3L2 +367 more	Copy number loss	See cases	GPathogenic
Select item 155594	GRCh38/hg38 18p11.32-11.31(chr18:136226-4802275)x1	ADCYAP1, CETN1 +120 more	Copy number loss	See cases	GPathogenic
Select item 155410	GRCh38/hg38 18p11.32-11.21(chr18:136226-14337134)x3	LOC130062144, LOC130062145 +368 more	Copy number gain	See cases	GPathogenic
Select item 155367	GRCh38/hg38 18p11.32-11.21(chr18:136226-15198991)x4	ADCYAP1, AFG3L2 +374 more	Copy number gain	See cases	GPathogenic
Select item 155151	GRCh38/hg38 18p11.32-q23(chr18:136226-80256240)x3	LOC130062667, LOC130062668 +1643 more	Copy number gain	See cases	GPathogenic
Select item 154071	GRCh38/hg38 18p11.32(chr18:136226-948277)x1	ADCYAP1, CETN1 +26 more	Copy number loss	See cases	GUncertain significance
Select item 153999	GRCh38/hg38 18p11.32-11.31(chr18:136226-4002983)x1	ADCYAP1, CETN1 +114 more	Copy number loss	See cases	GPathogenic
Select item 152369	GRCh38/hg38 18p11.32-11.31(chr18:136226-2994136)x1	EMILIN2, ADCYAP1 +63 more	Copy number loss	See cases	GPathogenic
Select item 151749	GRCh38/hg38 18p11.32-11.21(chr18:136226-15175006)	ADCYAP1, AFG3L2 +374 more	Copy number gain	See cases	GPathogenic
Select item 154106	GRCh38/hg38 18p11.32-q23(chr18:136227-80256240)x3	LOC130062278, LOC130062279 +1643 more	Copy number gain	See cases	GPathogenic
Select item 160884	GRCh38/hg38 18p11.32-11.21(chr18:148963-14081888)x1	ADCYAP1, AFG3L2 +367 more	Copy number loss	See cases	GPathogenic
Select item 160810	GRCh38/hg38 18p11.32-q23(chr18:148963-80252149)x3	LOC126862732, LOC126862733 +1643 more	Copy number gain	See cases	GPathogenic
Select item 154302	GRCh38/hg38 18p11.32(chr18:148963-1413685)x1	ADCYAP1, CETN1 +31 more	Copy number loss	See cases	GUncertain significance
Select item 148017	GRCh38/hg38 18p11.32(chr18:148963-1949961)x1	ADCYAP1, CETN1 +34 more	Copy number loss	See cases	GPathogenic
Select item 148011	GRCh38/hg38 18p11.32-11.21(chr18:148963-10900517)x1	ADCYAP1, AKAIN1 +245 more	Copy number loss	See cases	GPathogenic
Select item 147461	GRCh38/hg38 18p11.32(chr18:148963-2563898)x1	LOC126862677, LOC126862678 +41 more	Copy number loss	See cases	GUncertain significance
Select item 147395	GRCh38/hg38 18p11.32(chr18:148963-2313458)x1	ADCYAP1, CETN1 +36 more	Copy number loss	See cases	GPathogenic
Select item 146582	GRCh38/hg38 18p11.32-11.31(chr18:148963-6086668)x1	ADCYAP1, AKAIN1 +143 more	Copy number loss	See cases	GPathogenic
Select item 146225	GRCh38/hg38 18p11.32(chr18:148963-2221286)x3	TYMS, TYMSOS +35 more	Copy number gain	See cases	GPathogenic
Select item 146198	GRCh38/hg38 18p11.32-11.21(chr18:148963-14081888)x4	ADCYAP1, AFG3L2 +367 more	Copy number gain	See cases	GPathogenic
Select item 59916	GRCh38/hg38 18p11.32-11.21(chr18:148963-13068104)x1	ADCYAP1, AFG3L2 +327 more	Copy number loss	See cases	GPathogenic
Select item 59913	GRCh38/hg38 18p11.32-11.21(chr18:148963-13530126)x1	ADCYAP1, AFG3L2 +344 more	Copy number loss	See cases	GPathogenic
Select item 58729	GRCh38/hg38 18p11.32-q23(chr18:148963-80244381)x3	ANKRD12, ANKRD29 +1642 more	Copy number gain	See cases	GPathogenic
Select item 58728	GRCh38/hg38 18p11.32-q11.1(chr18:148963-21040153)x3	SLC35G4, SMCHD1 +375 more	Copy number gain	See cases	GPathogenic
Select item 57340	GRCh38/hg38 18p11.32-11.21(chr18:148963-13715860)x1	LOC129390955, LOC129390956 +358 more	Copy number loss	See cases	GPathogenic
Select item 34384	GRCh38/hg38 18p11.32-11.21(chr18:148963-14081888)x1	ADCYAP1, AFG3L2 +367 more	Copy number loss	See cases	GPathogenic
Select item 33085	GRCh38/hg38 18p11.32-q23(chr18:148963-80252149)x3	SERPINB12, SERPINB13 +1643 more	Copy number gain	See cases	GPathogenic
Select item 154991	GRCh38/hg38 18p11.32-11.31(chr18:149089-5458472)x3	ADCYAP1, AKAIN1 +131 more	Copy number gain	See cases	GPathogenic
Select item 150684	GRCh38/hg38 18p11.32-11.31(chr18:149089-5276567)x1	ADCYAP1, AKAIN1 +127 more	Copy number loss	See cases	GPathogenic
Select item 150559	GRCh38/hg38 18p11.32-q23(chr18:149089-80254936)x3	LOC125368553, LOC125368554 +1643 more	Copy number gain	See cases	GPathogenic
Select item 149895	GRCh38/hg38 18p11.32(chr18:149089-1754473)x1	ADCYAP1, CETN1 +32 more	Copy number loss	See cases	GPathogenic
Select item 144654	GRCh38/hg38 18p11.32-q23(chr18:149089-80234391)x3	LOC130062355, LOC130062356 +1642 more	Copy number gain	See cases	GPathogenic
Select item 2579191	GRCh38/hg38 18p11.32-11.21(chr18:158286-14124574)x1	ADCYAP1, AFG3L2 +367 more	Copy number loss	Deletion of short arm of chromosome 18	GPathogenic
Select item 147704	GRCh38/hg38 18p11.32-11.22(chr18:180229-10762632)x1	ADCYAP1, AKAIN1 +241 more	Copy number loss	See cases	GPathogenic
Select item 58747	GRCh38/hg38 18p11.32-11.31(chr18:180230-4199943)x3	ADCYAP1, CETN1 +113 more	Copy number gain	See cases	GPathogenic
Select item 154659	GRCh38/hg38 18p11.32(chr18:225061-776965)x3	CETN1, CLUL1 +18 more	Copy number gain	See cases	GUncertain significance
Select item 155261	GRCh38/hg38 18p11.32(chr18:287678-901105)x3	CETN1, CLUL1 +18 more	Copy number gain	See cases	GUncertain significance
Select item 155404	GRCh38/hg38 18p11.32(chr18:367724-759986)x1	CETN1, CLUL1 +15 more	Copy number loss	See cases	GUncertain significance
Select item 147699	GRCh38/hg38 18p11.32(chr18:374344-699626)x3	CETN1, CLUL1 +11 more	Copy number gain	See cases	GBenign
Select item 145342	GRCh38/hg38 18p11.32(chr18:605175-1371075)x3	ADCYAP1, CLUL1 +17 more	Copy number gain	See cases	GUncertain significance
Select item 148158	GRCh38/hg38 18p11.32(chr18:605210-1802497)x3	ADCYAP1, CLUL1 +19 more	Copy number gain	See cases	GUncertain significance
Select item 146229	GRCh38/hg38 18p11.32(chr18:605210-2425566)x3	ADCYAP1, CLUL1 +26 more	Copy number gain	See cases	GUncertain significance
Select item 2545880	NM_001393344.1(CLUL1):c.32G>T (p.Cys11Phe)	CLUL1 (C11F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2495352	NM_001393344.1(CLUL1):c.61G>A (p.Ala21Thr)	CLUL1 (A21T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3146166	NM_001393344.1(CLUL1):c.67A>G (p.Thr23Ala)	CLUL1 (T23A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2333549	NM_001393344.1(CLUL1):c.154G>C (p.Ala52Pro)	CLUL1 (A52P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2619868	NM_001393344.1(CLUL1):c.176T>C (p.Met59Thr)	CLUL1 (M59T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3146163	NM_001393344.1(CLUL1):c.207A>T (p.Glu69Asp)	CLUL1 (E69D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2541832	NM_001393344.1(CLUL1):c.269T>A (p.Leu90His)	CLUL1 (L90H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3146164	NM_001393344.1(CLUL1):c.346T>C (p.Cys116Arg)	CLUL1 (C116R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2512338	NM_001393344.1(CLUL1):c.359T>C (p.Leu120Pro)	CLUL1 (L120P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2358571	NM_001393344.1(CLUL1):c.395A>C (p.Gln132Pro)	CLUL1 (Q132P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2518636	NM_001393344.1(CLUL1):c.403T>C (p.Trp135Arg)	CLUL1 (W135R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3146165	NM_001393344.1(CLUL1):c.527A>G (p.Gln176Arg)	CLUL1 (Q176R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2457128	NM_001393344.1(CLUL1):c.577T>A (p.Ser193Thr)	CLUL1 (S193T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2457129	NM_001393344.1(CLUL1):c.578C>G (p.Ser193Cys)	CLUL1 (S193C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2378530	NM_001393344.1(CLUL1):c.601G>A (p.Val201Ile)	CLUL1 (V201I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2404905	NM_001393344.1(CLUL1):c.640C>G (p.Gln214Glu)	CLUL1 (Q214E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2481853	NM_001393344.1(CLUL1):c.652A>G (p.Ile218Val)	CLUL1 (I218V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2313271	NM_001393344.1(CLUL1):c.655T>C (p.Ser219Pro)	CLUL1 (S219P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3267943	NM_001393344.1(CLUL1):c.677C>T (p.Pro226Leu)	CLUL1 (P226L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3267942	NM_001393344.1(CLUL1):c.770A>G (p.Asn257Ser)	CLUL1 (N257S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3146167	NM_001393344.1(CLUL1):c.885G>T (p.Lys295Asn)	CLUL1 (K295N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3146168	NM_001393344.1(CLUL1):c.886A>T (p.Met296Leu)	CLUL1 (M296L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2369559	NM_001393344.1(CLUL1):c.904A>G (p.Arg302Gly)	CLUL1 (R302G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2327004	NM_001393344.1(CLUL1):c.925G>T (p.Asp309Tyr)	CLUL1 (D309Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3146169	NM_001393344.1(CLUL1):c.929A>G (p.Gln310Arg)	CLUL1 (Q310R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2234412	NM_001393344.1(CLUL1):c.1009C>A (p.Pro337Thr)	CLUL1, LOC126862676 (P337T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2521156	NM_001393344.1(CLUL1):c.1033G>A (p.Glu345Lys)	CLUL1, LOC126862676 (E345K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2539741	NM_001393344.1(CLUL1):c.1204A>G (p.Ile402Val)	CLUL1, LOC126862676 (I402V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3146162	NM_001393344.1(CLUL1):c.1262T>C (p.Met421Thr)	CLUL1 (M421T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2334587	NM_001393344.1(CLUL1):c.1334C>T (p.Ser445Phe)	CLUL1 (S445F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3063564	GRCh37/hg19 18p11.32-11.23(chr18:136227-8359829)x1	ADCYAP1, AKAIN1 +28 more	Copy number loss	not specified	GPathogenic
Select item 3063563	GRCh37/hg19 18p11.32-11.21(chr18:136226-14352648)x1	ADCYAP1, AFG3L2 +63 more	Copy number loss	not specified	GPathogenic
Select item 3063558	GRCh37/hg19 18p11.32-11.21(chr18:136226-15161581)x1	ADCYAP1, AFG3L2 +65 more	Copy number loss	not specified	GPathogenic
Select item 3063557	GRCh37/hg19 18p11.32-11.31(chr18:544117-5679224)x1	ADCYAP1, AKAIN1 +19 more	Copy number loss	not specified	GPathogenic

<< First< Prev

Page of 2