2168[Gene ID] - ClinVar

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Items: 31

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 145403	GRCh38/hg38 2p12-11.2(chr2:77025216-90282666)x3	ATOH8, C2orf68 +302 more	Copy number gain	See cases	GPathogenic
Select item 153632	GRCh38/hg38 2p11.2(chr2:85014686-88826619)x1	ATOH8, C2orf68 +179 more	Copy number loss	See cases	GPathogenic
Select item 146363	GRCh38/hg38 2p11.2-11.1(chr2:87098178-91884275)x3	LOC122787150, LOC122787151 +104 more	Copy number gain	See cases	GUncertain significance
Select item 148476	GRCh38/hg38 2p11.2(chr2:87375475-90282666)x3	CYTOR, EIF2AK3 +101 more	Copy number gain	See cases	GUncertain significance
Select item 2339242	NM_001443.3(FABP1):c.374A>G (p.Lys125Arg)	FABP1 (K125R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3091538	NM_001443.3(FABP1):c.350A>C (p.Asp117Ala)	FABP1 (D117A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2231498	NM_001443.3(FABP1):c.347G>A (p.Gly116Asp)	FABP1 (G116D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3091537	NM_001443.3(FABP1):c.298T>A (p.Ser100Thr)	FABP1 (S100T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2551299	NM_001443.3(FABP1):c.262G>A (p.Asp88Asn)	FABP1 (D88N)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2263569	NM_001443.3(FABP1):c.224C>T (p.Thr75Ile)	FABP1 (T75I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2295559	NM_001443.3(FABP1):c.166T>A (p.Ser56Thr)	FABP1 (S56T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2466210	NM_001443.3(FABP1):c.104T>C (p.Ile35Thr)	FABP1 (I35T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2360876	NM_001443.3(FABP1):c.94G>A (p.Gly32Arg)	FABP1 (G32R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2326414	NM_001443.3(FABP1):c.57G>A (p.Met19Ile)	FABP1 (M19I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2614351	NM_001443.3(FABP1):c.19T>G (p.Tyr7Asp)	FABP1 (Y7D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 749751	NM_001443.3(FABP1):c.12C>T (p.Ser4=)	FABP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3062514	GRCh37/hg19 2p11.2(chr2:88134750-89126290)x1	EIF2AK3, FABP1 +6 more	Copy number loss	not specified	GUncertain significance
Select item 1808125	GRCh37/hg19 2p11.2(chr2:88046609-89126291)x1	RPIA, SMYD1 +7 more	Copy number loss	not provided	GUncertain significance
Select item 1708190	GRCh37/hg19 2p25.1-q13(chr2:11504318-111365996)x1	ACTG2, ACTR1B +529 more	Copy number loss	See cases	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 1526862	GRCh37/hg19 2p11.2(chr2:88180842-89126291)	EIF2AK3, FABP1 +6 more	Copy number loss	not specified	GUncertain significance
Select item 1526851	GRCh37/hg19 2p11.2(chr2:88046608-89126291)	EIF2AK3, FABP1 +7 more	Copy number loss	not specified	GUncertain significance
Select item 1176758	GRCh37/hg19 2p11.2(chr2:88007281-90260248)x1	EIF2AK3, FABP1 +8 more	Copy number loss	not provided	GPathogenic
Select item 814281	GRCh37/hg19 2p11.2(chr2:88403403-89129064)x3	THNSL2, FOXI3 +5 more	Copy number gain	not provided	GUncertain significance
Select item 562678	GRCh37/hg19 2p13.1-11.2(chr2:74527522-89125488)x1	ATOH8, AUP1 +78 more	Copy number loss	not provided	GPathogenic
Select item 562600	GRCh37/hg19 2p11.2(chr2:88268212-88842463)x3	SMYD1, THNSL2 +4 more	Copy number gain	not provided	GLikely benign
Select item 524189	Single allele	ACMSD, C2orf27A +486 more	Deletion	not provided	GLikely pathogenic
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 442637	GRCh37/hg19 2p11.2(chr2:88046608-89129064)x1	EIF2AK3, FABP1 +7 more	Copy number loss	See cases	Gconflicting data from submitters
Select item 442633	GRCh37/hg19 2p13.1-11.2(chr2:74365484-89129064)x1	SFTPB, SH2D6 +81 more	Copy number loss	See cases	GPathogenic

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Items: 31