ClinVar for Gene (Select 151195) - ClinVar

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Links from Gene

Items: 40

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3140030	NM_001330218.2(CCNYL1):c.1015A>G (p.Met339Val)	CCNYL1 (M269V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3140029	NM_001330218.2(CCNYL1):c.71C>T (p.Ala24Val)	CCNYL1 (A24V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3140027	NM_001330218.2(CCNYL1):c.721C>T (p.Leu241Phe)	CCNYL1 (L190F +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3140026	NM_001330218.2(CCNYL1):c.457A>G (p.Ile153Val)	CCNYL1 (I83V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3140025	NM_001330218.2(CCNYL1):c.235T>G (p.Ser79Ala)	CCNYL1 (S9A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3062594	GRCh37/hg19 2q32.3-34(chr2:194305623-215261531)x1	ABI2, ACADL +95 more	Copy number loss	not specified	GPathogenic
Select item 3062481	GRCh37/hg19 2q33.2-34(chr2:204110688-211638554)x1	ABI2, ACADL +38 more	Copy number loss	not specified	GPathogenic
Select item 2651848	NM_001330218.2(CCNYL1):c.864C>T (p.Ala288=)	CCNYL1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2651847	NM_001330218.2(CCNYL1):c.220+2302T>A	CCNYL1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2580353	GRCh37/hg19 2q32.1-36.1(chr2:186698504-223918111)x3	AAMP, ABCA12 +208 more	Copy number gain	See cases	GPathogenic
Select item 2495410	NM_001330218.2(CCNYL1):c.1063A>G (p.Lys355Glu)	CCNYL1 (K285E +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2348782	NM_001330218.2(CCNYL1):c.160G>T (p.Asp54Tyr)	CCNYL1 (D54Y)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2348120	NM_001330218.2(CCNYL1):c.1058G>A (p.Arg353His)	CCNYL1 (R302H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2337548	NM_001330218.2(CCNYL1):c.58C>T (p.Arg20Cys)	CCNYL1 (R20C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2268841	NM_001330218.2(CCNYL1):c.170A>G (p.Glu57Gly)	CCNYL1 (E57G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2262783	NM_001330218.2(CCNYL1):c.24C>G (p.Cys8Trp)	CCNYL1 (C8W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1808483	GRCh37/hg19 2q32.2-34(chr2:189909904-209468383)x1	ABI2, ADAM23 +107 more	Copy number loss	not provided	GPathogenic
Select item 1703543	GRCh37/hg19 2p25.3-q37.3(chr2:1-243199373)	ABCA12, ABCB11 +1216 more	Copy number gain	Mosaic trisomy 2	GPathogenic
Select item 1703524	GRCh37/hg19 2q32.1-34(chr2:185697659-213002074)	ABI2, ACADL +127 more	Copy number loss	Chromosome 2q32-q33 deletion syndrome	GPathogenic
Select item 1526943	GRCh37/hg19 2q33.1-34(chr2:200851079-209054267)	ABI2, ADAM23 +58 more	Copy number loss	not specified	GPathogenic
Select item 1526933	GRCh37/hg19 2q31.1-35(chr2:169829974-215521436)	AGPS, ANKAR +217 more	Copy number gain	not specified	GPathogenic
Select item 1511552	NC_000002.11:g.(?_203420070)_(211811277_?)del	ADAM23, CPO +44 more	Deletion	Primary pulmonary hypertension	GUncertain significance
Select item 983184	GRCh37/hg19 2q31.2-37.3(chr2:178397959-243007457)x3	AAMP, ABCA12 +384 more	Copy number gain	See cases	GPathogenic
Select item 979400	GRCh37/hg19 2q33.2-34(chr2:204445619-212580788)x1	ACADL, ADAM23 +36 more	Copy number loss	not provided	GPathogenic
Select item 814337	GRCh37/hg19 2q24.2-34(chr2:163233162-211927188)x3	CASP8, CAVIN2 +233 more	Copy number gain	not provided	GPathogenic
Select item 635897	Single allele	ACSL3, ADAM23 +208 more	Duplication	Neurodevelopmental disorder	GPathogenic
Select item 562677	GRCh37/hg19 2q33.3-35(chr2:205169148-219149293)x3	AAMP, ABCA12 +60 more	Copy number gain	not provided	GPathogenic
Select item 442998	GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384)	RGPD4, RGPD5 +1214 more	Copy number gain	See cases	GPathogenic
Select item 442997	GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384)x3	IL1F10, IL1R1 +1214 more	Copy number gain	See cases	GPathogenic
Select item 155234	GRCh38/hg38 2q33.1-34(chr2:199937273-210031924)x1	ABI2, ADAM23 +298 more	Copy number loss	See cases	GPathogenic
Select item 154206	GRCh38/hg38 2q32.2-37.3(chr2:189436149-241841232)x3	LOC129935343, LOC129935344 +1687 more	Copy number gain	See cases	GPathogenic
Select item 152738	GRCh38/hg38 2q32.3-35(chr2:192938826-215705052)x1	ABCA12, ABI2 +509 more	Copy number loss	See cases	GPathogenic
Select item 152538	GRCh38/hg38 2q33.1-34(chr2:199946494-209985195)x1	ABI2, ADAM23 +293 more	Copy number loss	See cases	GPathogenic
Select item 150829	GRCh38/hg38 2q33.3-34(chr2:204906843-210031449)x1	ADAM23, C2orf80 +131 more	Copy number loss	See cases	GPathogenic
Select item 150620	GRCh38/hg38 2q31.3-36.2(chr2:180513793-224302848)x3	INPP1, ITGA4 +1097 more	Copy number gain	See cases	GPathogenic
Select item 150477	GRCh38/hg38 2q33.3-34(chr2:207058886-211245603)x1	ACADL, C2orf80 +96 more	Copy number loss	See cases	GPathogenic
Select item 146042	GRCh38/hg38 2q33.3(chr2:207661540-207876453)x3	CCNYL1, FZD5 +15 more	Copy number gain	See cases	GUncertain significance
Select item 59159	GRCh38/hg38 2q32.2-37.3(chr2:190310736-241892770)x3	AAMP, ABCA12 +1665 more	Copy number gain	See cases	GPathogenic
Select item 59158	GRCh38/hg38 2q32.2-37.3(chr2:188818195-242065208)x3	AAMP, ABCA12 +1703 more	Copy number gain	See cases	GPathogenic
Select item 57419	GRCh38/hg38 2q32.3-37.3(chr2:194898783-236473913)x3	LOC129935480, LOC129935481 +1299 more	Copy number gain	See cases	GPathogenic

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Links from Gene

Items: 40