ClinVar for Gene (Select 27098) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 3146169	NM_001393344.1(CLUL1):c.929A>G (p.Gln310Arg)	CLUL1 (Q310R)	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 3146167	NM_001393344.1(CLUL1):c.885G>T (p.Lys295Asn)	CLUL1 (K295N)	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 3146165	NM_001393344.1(CLUL1):c.527A>G (p.Gln176Arg)	CLUL1 (Q176R)	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 3146163	NM_001393344.1(CLUL1):c.207A>T (p.Glu69Asp)	CLUL1 (E69D)	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 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
Select item 3063541	GRCh37/hg19 18p11.32-11.22(chr18:136226-10365982)x1	ADCYAP1, AKAIN1 +38 more	Copy number loss	not specified	GPathogenic
Select item 3063540	GRCh37/hg19 18p11.32-11.21(chr18:136226-14455323)x3	ADCYAP1, AFG3L2 +63 more	Copy number gain	not specified	GPathogenic
Select item 3063537	GRCh37/hg19 18p11.32-11.21(chr18:136226-14148354)x3	ADCYAP1, AFG3L2 +63 more	Copy number gain	not specified	GPathogenic
Select item 3062373	GRCh37/hg19 18p11.32-11.21(chr18:136227-15157836)x3	ADCYAP1, AFG3L2 +65 more	Copy number gain	not specified	GPathogenic
Select item 2685612	GRCh37/hg19 18p11.32-11.22(chr18:136227-8513569)x1	ADCYAP1, AKAIN1 +28 more	Copy number loss	not provided	GPathogenic
Select item 2685611	GRCh37/hg19 18p11.32-11.21(chr18:136227-14585159)x1	ADCYAP1, AFG3L2 +64 more	Copy number loss	not provided	GPathogenic
Select item 2685058	GRCh37/hg19 18p11.32-q11.1(chr18:136227-18521285)x4	ADCYAP1, AFG3L2 +65 more	Copy number gain	not provided	GPathogenic
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 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 2545880	NM_001393344.1(CLUL1):c.32G>T (p.Cys11Phe)	CLUL1 (C11F)	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 2539741	NM_001393344.1(CLUL1):c.1204A>G (p.Ile402Val)	CLUL1, LOC126862676 (I402V)	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 2518636	NM_001393344.1(CLUL1):c.403T>C (p.Trp135Arg)	CLUL1 (W135R)	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 2495352	NM_001393344.1(CLUL1):c.61G>A (p.Ala21Thr)	CLUL1 (A21T)	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 2457129	NM_001393344.1(CLUL1):c.578C>G (p.Ser193Cys)	CLUL1 (S193C)	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 2446821	GRCh37/hg19 18p11.32-11.1(chr18:1-15400035)	ADCYAP1, AFG3L2 +65 more	Copy number loss	Deletion of short arm of chromosome 18	GPathogenic
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 2378530	NM_001393344.1(CLUL1):c.601G>A (p.Val201Ile)	CLUL1 (V201I)	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 2358571	NM_001393344.1(CLUL1):c.395A>C (p.Gln132Pro)	CLUL1 (Q132P)	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 2333549	NM_001393344.1(CLUL1):c.154G>C (p.Ala52Pro)	CLUL1 (A52P)	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 2313271	NM_001393344.1(CLUL1):c.655T>C (p.Ser219Pro)	CLUL1 (S219P)	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 1808401	GRCh37/hg19 18p11.32(chr18:136227-2626840)x1	ADCYAP1, CETN1 +10 more	Copy number loss	not provided	GUncertain significance
Select item 1807830	GRCh37/hg19 18p11.32-11.23(chr18:136227-7218594)x1	ADCYAP1, AKAIN1 +26 more	Copy number loss	not provided	GPathogenic
Select item 1807753	GRCh37/hg19 18p11.32-11.21(chr18:136227-11283184)x1	ADCYAP1, AKAIN1 +41 more	Copy number loss	not provided	GPathogenic
Select item 1711456	GRCh37/hg19 18p11.32-11.22(chr18:1-8638260)x1	DLGAP1, DLGAP1-AS2 +29 more	Copy number loss	not provided	GPathogenic
Select item 1706501	GRCh37/hg19 18p11.32-11.21(chr18:136226-14632436)x1	METTL4, MPPE1 +64 more	Copy number loss	See cases	GPathogenic
Select item 1703623	GRCh37/hg19 18p11.32-11.23(chr18:136226-7131132)	ADCYAP1, AKAIN1 +26 more	Copy number loss	Deletion of short arm of chromosome 18	GPathogenic
Select item 1703622	GRCh37/hg19 18p11.32-11.22(chr18:136226-10172941)	ADCYAP1, AKAIN1 +38 more	Copy number loss	Deletion of short arm of chromosome 18	GPathogenic
Select item 1703574	GRCh37/hg19 18p11.32-q23(chr18:1-78077248)	CABYR, CBLN2 +267 more	Copy number gain	Trisomy 18	GPathogenic
Select item 1701345	GRCh37/hg19 18p11.32-11.21(chr18:47390-14854037)x3	FAM210A, LAMA1 +65 more	Copy number gain	not provided	GPathogenic
Select item 1526597	GRCh37/hg19 18p11.32-q23(chr18:136226-78014123)	ABHD3, ACAA2 +267 more	Copy number gain	not specified	GPathogenic
Select item 1526594	GRCh37/hg19 18p11.32-11.21(chr18:136226-15198990)	ADCYAP1, AFG3L2 +65 more	Copy number gain	not specified	GPathogenic
Select item 1526593	GRCh37/hg19 18p11.32-11.21(chr18:136226-14983938)	ADCYAP1, AFG3L2 +65 more	Copy number loss	not specified	GPathogenic
Select item 1526592	GRCh37/hg19 18p11.32-11.21(chr18:136226-14384326)	ADCYAP1, AFG3L2 +63 more	Copy number gain	not specified	GPathogenic
Select item 1526591	GRCh37/hg19 18p11.32-11.21(chr18:136226-13655146)	TUBB6, TWSG1 +58 more	Copy number loss	not specified	GPathogenic
Select item 1526590	GRCh37/hg19 18p11.32-11.31(chr18:136226-6103499)	ADCYAP1, AKAIN1 +24 more	Copy number loss	not specified	GPathogenic
Select item 1340624	GRCh37/hg19 18p11.32(chr18:617707-2154890)x3	ADCYAP1, CLUL1 +4 more	Copy number gain	not provided	GLikely benign
Select item 1340357	GRCh37/hg19 18p11.32(chr18:136227-2694169)x1	ADCYAP1, CETN1 +11 more	Copy number loss	not provided	GUncertain significance
Select item 1340066	GRCh37/hg19 18p11.32-q12.1(chr18:136226-25252276)x3	ABHD3, ADCYAP1 +95 more	Copy number gain	not provided	GPathogenic
Select item 1330176	GRCh37/hg19 18p11.32-11.1(chr18:10501-15410398)x1	ADCYAP1, AFG3L2 +65 more	Copy number loss	Deletion of short arm of chromosome 18	GPathogenic
Select item 1328441	GRCh37/hg19 18p11.32-11.31(chr18:64647-4472031)x3	ADCYAP1, CETN1 +19 more	Copy number loss	not provided	GUncertain significance
Select item 1180530	GRCh37/hg19 18p11.32-11.31(chr18:64996-6838315)x1	CETN1, CLUL1 +25 more	Copy number loss	not provided	GPathogenic
Select item 983167	GRCh37/hg19 18p11.32(chr18:10001-1322185)	TYMSOS, TYMS +8 more	Copy number gain	See cases	GUncertain significance
Select item 979685	GRCh37/hg19 18p11.32-11.31(chr18:136226-3415478)x1	MYOM1, USP14 +17 more	Copy number loss	not provided	GPathogenic
Select item 979534	GRCh37/hg19 18p11.32(chr18:136226-2243194)x1	TYMS, ADCYAP1 +8 more	Copy number loss	not provided	GUncertain significance
Select item 979533	GRCh37/hg19 18p11.32(chr18:544117-2279032)x1	ENOSF1, TYMS +5 more	Copy number loss	not provided	GUncertain significance
Select item 979530	GRCh37/hg19 18p11.32(chr18:1-2243194)x3	TYMSOS, COLEC12 +8 more	Copy number gain	not provided	GUncertain significance
Select item 979529	GRCh37/hg19 18p11.32(chr18:136226-2626840)x1	NDC80, THOC1 +10 more	Copy number loss	not provided	GUncertain significance
Select item 979528	GRCh37/hg19 18p11.32(chr18:351499-825957)x3	CETN1, ENOSF1 +5 more	Copy number gain	not provided	GLikely benign
Select item 979527	GRCh37/hg19 18p11.32(chr18:557086-635713)x1	CLUL1, CETN1	Copy number loss	not provided	GLikely benign
Select item 816496	GRCh37/hg19 18p11.32-11.21(chr18:13034-15330525)x1	MYL12B, FAM210A +65 more	Copy number loss	See cases	GPathogenic
Select item 815988	GRCh37/hg19 18p11.32-q11.1(chr18:136226-18529578)x1	ADCYAP1, AFG3L2 +65 more	Copy number loss	not provided	GPathogenic
Select item 815987	GRCh37/hg19 18p11.32-11.21(chr18:136226-15175005)x1	MC2R, ZBTB14 +65 more	Copy number loss	not provided	GPathogenic
Select item 815986	GRCh37/hg19 18p11.32-11.21(chr18:136304-15143714)x1	CEP192, TUBB6 +65 more	Copy number loss	not provided	GPathogenic
Select item 815981	GRCh37/hg19 18p11.32-11.21(chr18:136226-13894429)x1	RAB12, RAB31 +62 more	Copy number loss	not provided	GPathogenic
Select item 815967	GRCh37/hg19 18p11.32-11.31(chr18:544117-5679224)x1	ZBTB14, MYL12A +19 more	Copy number loss	not provided	GPathogenic
Select item 815966	GRCh37/hg19 18p11.32-11.31(chr18:136226-5407839)x1	METTL4, MYL12B +22 more	Copy number loss	not provided	GPathogenic
Select item 815964	GRCh37/hg19 18p11.32-11.31(chr18:136226-3502493)x1	MYOM1, SMCHD1 +18 more	Copy number loss	not provided	GPathogenic
Select item 815961	GRCh37/hg19 18p11.32(chr18:544117-2243194)x3	CETN1, ADCYAP1 +5 more	Copy number gain	not provided	GLikely benign
Select item 815959	GRCh37/hg19 18p11.32(chr18:136226-1552876)x1	ADCYAP1, CETN1 +8 more	Copy number loss	not provided	GUncertain significance
Select item 815957	GRCh37/hg19 18p11.32(chr18:517102-1331930)x3	TYMS, YES1 +5 more	Copy number gain	not provided	GLikely benign
Select item 688730	GRCh37/hg19 18p11.32(chr18:544117-2238246)x1	ADCYAP1, CETN1 +5 more	Copy number loss	not provided	GUncertain significance
Select item 687813	GRCh37/hg19 18p11.32(chr18:136226-1197643)x3	ADCYAP1, CETN1 +8 more	Copy number gain	not provided	GUncertain significance
Select item 687015	GRCh37/hg19 18p11.32(chr18:640537-2502449)x3	ADCYAP1, CLUL1 +4 more	Copy number gain	not provided	GUncertain significance
Select item 685954	GRCh37/hg19 18p11.32(chr18:517102-1331930)x3	ADCYAP1, CETN1 +5 more	Copy number gain	not provided	GUncertain significance
Select item 685127	GRCh37/hg19 18p11.32(chr18:560767-845592)x1	CETN1, CLUL1 +4 more	Copy number loss	not provided	GUncertain significance
Select item 635889	Single allele	ADCYAP1, CETN1 +8 more	Deletion	Neurodevelopmental disorder	GPathogenic
Select item 564565	GRCh37/hg19 18p11.32-11.21(chr18:136226-15198990)x4	NDUFV2, POTEC +65 more	Copy number gain	not provided	GPathogenic
Select item 564564	GRCh37/hg19 18p11.32-11.21(chr18:136226-15198989)x1	DLGAP1, ZNF519 +65 more	Copy number loss	not provided	GPathogenic
Select item 564563	GRCh37/hg19 18p11.32-11.21(chr18:136226-15157836)x4	PSMG2, SMCHD1 +65 more	Copy number gain	not provided	GPathogenic
Select item 564559	GRCh37/hg19 18p11.32-11.21(chr18:136226-12767079)x1	DLGAP1-AS2, SMCHD1 +54 more	Copy number loss	not provided	GPathogenic
Select item 564557	GRCh37/hg19 18p11.32-11.22(chr18:136226-10074733)x1	LRRC30, USP14 +38 more	Copy number loss	not provided	GPathogenic
Select item 564555	GRCh37/hg19 18p11.32-11.23(chr18:136226-8057394)x1	TMEM200C, COLEC12 +28 more	Copy number loss	not provided	GPathogenic
Select item 564552	GRCh37/hg19 18p11.32-11.31(chr18:136226-4925310)x1	LPIN2, SMCHD1 +19 more	Copy number loss	not provided	GPathogenic
Select item 564541	GRCh37/hg19 18p11.32(chr18:544906-2702746)x3	ADCYAP1, TYMSOS +8 more	Copy number gain	not provided	GUncertain significance
Select item 564538	GRCh37/hg19 18p11.32(chr18:544117-2243194)x1	YES1, ADCYAP1 +5 more	Copy number loss	not provided	GLikely benign
Select item 560039	Single allele	ADCYAP1, AKAIN1 +27 more	Duplication	not provided	GPathogenic
Select item 545223	NC_000018.10:g.(?_10000)_(1543845_?)del	ADCYAP1, CETN1 +36 more	Deletion	Autism	GLikely pathogenic

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