GULP1[gene] - ClinVar

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Items: 43

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 147692	GRCh38/hg38 2q31.1-32.2(chr2:171429233-189179568)x1	AGPS, ATF2 +417 more	Copy number loss	See cases	GPathogenic
Select item 147705	GRCh38/hg38 2q31.1-32.2(chr2:174634502-189000964)x1	AGPS, ATF2 +307 more	Copy number loss	See cases	GPathogenic
Select item 57301	GRCh38/hg38 2q31.1-33.2(chr2:174898848-203941548)x1	LOC129935164, LOC129935165 +697 more	Copy number loss	See cases	GPathogenic
Select item 155417	GRCh38/hg38 2q31.1-32.3(chr2:176086763-193201970)x1	AGPS, ANKAR +377 more	Copy number loss	See cases	GPathogenic
Select item 58770	GRCh38/hg38 2q31.1-33.1(chr2:176304445-202039790)x1	LOC126806416, LOC126806417 +591 more	Copy number loss	See cases	GPathogenic
Select item 153288	GRCh38/hg38 2q31.2-32.3(chr2:177827730-195125329)x1	ANKAR, ASDURF +312 more	Copy number loss	See cases	GPathogenic
Select item 58771	GRCh38/hg38 2q31.2-33.1(chr2:177874070-198525492)x1	ANKAR, ANKRD44 +430 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 149200	GRCh38/hg38 2q31.3-32.3(chr2:181758701-192015392)x1	ANKAR, ASDURF +191 more	Copy number loss	See cases	GPathogenic
Select item 146616	GRCh38/hg38 2q32.1-33.1(chr2:186027472-201059372)x1	ANKAR, ANKRD44 +329 more	Copy number loss	See cases	GPathogenic
Select item 154665	GRCh38/hg38 2q32.1-32.2(chr2:188335678-188503740)x1	GULP1	Copy number loss	See cases	GBenign
Select item 147273	GRCh38/hg38 2q32.1(chr2:188383776-188489768)x1	GULP1	Copy number loss	See cases	GBenign
Select item 3103342	NM_016315.4(GULP1):c.49C>T (p.Pro17Ser)	GULP1 (P17S)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 146567	GRCh38/hg38 2q32.1-32.2(chr2:188489709-188597825)x1	GULP1	Copy number loss	See cases	GBenign
Select item 2475568	NM_016315.4(GULP1):c.220A>G (p.Ile74Val)	GULP1 (I74V +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3103340	NM_016315.4(GULP1):c.226A>G (p.Ile76Val)	GULP1 (I52V +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2250873	NM_016315.4(GULP1):c.250C>T (p.Pro84Ser)	GULP1 (P84S +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2527676	NM_016315.4(GULP1):c.256A>G (p.Thr86Ala)	GULP1 (T58A +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2486233	NM_016315.4(GULP1):c.317C>G (p.Thr106Ser)	GULP1 (T78S +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3103341	NM_016315.4(GULP1):c.397T>A (p.Cys133Ser)	GULP1 (C133S +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2406698	NM_016315.4(GULP1):c.655A>G (p.Met219Val)	GULP1 (M274V +7 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2620707	NM_016315.4(GULP1):c.685T>C (p.Ser229Pro)	GULP1 (S126P +7 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2305930	NM_016315.4(GULP1):c.697A>G (p.Thr233Ala)	GULP1 (T284A +7 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3103343	NM_016315.4(GULP1):c.781C>G (p.Pro261Ala)	GULP1 (P158A +7 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2346428	NM_016315.4(GULP1):c.908G>C (p.Arg303Thr)	GULP1 (R256T +4 more)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
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 1807826	GRCh37/hg19 2q32.1-33.1(chr2:187152754-199960525)x1	ANKAR, ANKRD44 +48 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 1526933	GRCh37/hg19 2q31.1-35(chr2:169829974-215521436)	AGPS, ANKAR +217 more	Copy number gain	not specified	GPathogenic
Select item 1340315	GRCh37/hg19 2q32.1(chr2:188806903-189166330)x3	GULP1	Copy number gain	not provided	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 979391	GRCh37/hg19 2q32.1-33.1(chr2:188294864-197731939)x3	ANKAR, ASNSD1 +34 more	Copy number gain	not provided	GLikely pathogenic
Select item 814347	GRCh37/hg19 2q31.1-32.3(chr2:174690039-195521582)x1	AGPS, ANKAR +86 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 687919	GRCh37/hg19 2q32.1-32.2(chr2:189396004-189439600)x1	GULP1	Copy number loss	not provided	GUncertain significance
Select item 687517	GRCh37/hg19 2q24.3-32.3(chr2:167329586-192756373)x1	ABCB11, AGPS +125 more	Copy number loss	not provided	GPathogenic
Select item 635897	Single allele	ACSL3, ADAM23 +208 more	Duplication	Neurodevelopmental disorder	GPathogenic
Select item 562601	GRCh37/hg19 2q32.1-32.2(chr2:189322984-189910304)x3	COL3A1, COL5A2 +2 more	Copy number gain	not provided	GUncertain significance
Select item 562532	GRCh37/hg19 2q32.1-32.2(chr2:189298315-189468360)x1	GULP1	Copy number loss	not provided	GLikely benign
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 252975	GRCh37/hg19 2q31.1-32.3(chr2:177315153-196375520)x1	AGPS, ANKAR +62 more	Copy number loss	See cases	GPathogenic

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Items: 43