26084[HGNC] - ClinVar

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Items: 43

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 154206	GRCh38/hg38 2q32.2-37.3(chr2:189436149-241841232)x3	LOC129935343, LOC129935344 +1687 more	Copy number gain	See cases	GPathogenic
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 57419	GRCh38/hg38 2q32.3-37.3(chr2:194898783-236473913)x3	LOC129935480, LOC129935481 +1299 more	Copy number gain	See cases	GPathogenic
Select item 146683	GRCh38/hg38 2q34-37.3(chr2:210579676-242126245)x3	LOC129935841, LOC129935842 +1148 more	Copy number gain	See cases	GPathogenic
Select item 155149	GRCh38/hg38 2q35-37.3(chr2:218101759-242126245)x3	LOC129935871, LOC129935872 +986 more	Copy number gain	See cases	GPathogenic
Select item 58847	GRCh38/hg38 2q36.3-37.3(chr2:226978129-236886599)x1	LOC126806566, LOC126806567 +393 more	Copy number loss	See cases	GPathogenic
Select item 58848	GRCh38/hg38 2q36.3-37.2(chr2:227343278-235339168)x1	AGFG1, ALPG +347 more	Copy number loss	See cases	GPathogenic
Select item 59173	GRCh38/hg38 2q36.3-37.3(chr2:227803148-242086301)x3	ACKR3, AGAP1 +630 more	Copy number gain	See cases	GPathogenic
Select item 147843	GRCh38/hg38 2q36.3-37.2(chr2:228014149-234976424)x3	ALPG, ALPI +309 more	Copy number gain	See cases	GPathogenic
Select item 144756	GRCh38/hg38 2q36.3-37.3(chr2:228723579-241404867)x3	LOC129935973, LOC129935974 +576 more	Copy number gain	See cases	GPathogenic
Select item 2587919	NM_001100818.2(PID1):c.616G>A (p.Glu206Lys)	PID1 (E206K +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2276899	NM_001100818.2(PID1):c.592C>T (p.Arg198Trp)	PID1 (R149W +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 982191	NM_001100818.2(PID1):c.586G>A (p.Asp196Asn)	PID1 (D147N +4 more)	Single nucleotide variant (missense variant)	Moyamoya angiopathy	GLikely pathogenic
Select item 2298188	NM_001100818.2(PID1):c.574A>G (p.Ser192Gly)	PID1 (S223G +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3212606	NM_001100818.2(PID1):c.545T>C (p.Met182Thr)	PID1 (M182T +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3212605	NM_001100818.2(PID1):c.488A>T (p.Asp163Val)	PID1 (D149V +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2208320	NM_001100818.2(PID1):c.482A>G (p.Gln161Arg)	PID1 (Q147R +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2282185	NM_001100818.2(PID1):c.376G>C (p.Asp126His)	PID1 (D112H +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3049174	NM_001100818.2(PID1):c.269C>T (p.Thr90Met)	PID1 (T121M +4 more)	Single nucleotide variant (missense variant)	PID1-related disorder	GLikely benign
Select item 2603124	NM_001100818.2(PID1):c.261G>T (p.Lys87Asn)	PID1 (K118N +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3212604	NM_001100818.2(PID1):c.178G>A (p.Val60Ile)	PID1 (V60I +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3212603	NM_001100818.2(PID1):c.106C>T (p.His36Tyr)	PID1 (H69Y +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3212601	NM_001100818.2(PID1):c.45G>A (p.Met15Ile)	PID1 (M46I +3 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3033804	NM_001100818.2(PID1):c.16A>G (p.Thr6Ala)	PID1 (T6A)	Single nucleotide variant (missense variant +1 more)	PID1-related disorder	GLikely benign
Select item 3148939	GRCh37/hg19 2q35-37.3(chr2:216815496-242782258)x3	AAMP, ABCB6 +218 more	Copy number gain	See cases	GPathogenic
Select item 2685879	GRCh37/hg19 2q36.2-37.3(chr2:225995545-237594511)x3	ACKR3, AGAP1 +79 more	Copy number gain	not provided	GPathogenic
Select item 2685875	GRCh37/hg19 2q35-37.3(chr2:218376403-242783384)x3	AAMP, ABCB6 +208 more	Copy number gain	not provided	GPathogenic
Select item 2671587	Single allele	CHRND, LRRFIP1 +123 more	Duplication	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 1526961	GRCh37/hg19 2q36.3-37.1(chr2:229968217-231883182)	CAB39, DNER +11 more	Copy number loss	not specified	GPathogenic
Select item 1526959	GRCh37/hg19 2q36.3-37.1(chr2:228807574-235475892)	ALPG, ALPI +61 more	Copy number loss	not specified	GPathogenic
Select item 1526955	GRCh37/hg19 2q36.1-37.1(chr2:223378640-232061074)	ACSL3, AGFG1 +40 more	Copy number loss	not specified	GPathogenic
Select item 1526953	GRCh37/hg19 2q35-37.3(chr2:219606537-239217703)	FBXO36, UGT1A5 +147 more	Copy number loss	not specified	GPathogenic
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 638100	GRCh37/hg19 2q34-37.3(chr2:210779657-239879183)x3	CTDSP1, NGEF +197 more	Copy number gain	See cases	GPathogenic
Select item 562681	GRCh37/hg19 2q35-37.3(chr2:219225872-242016876)x3	ABCB6, ACKR3 +183 more	Copy number gain	not provided	GPathogenic
Select item 562640	GRCh37/hg19 2q36.3(chr2:229148478-230581421)x1	PID1, DNER	Copy number loss	not provided	GUncertain significance
Select item 443894	GRCh37/hg19 2q36.3(chr2:229365794-230718969)x3	DNER, PID1 +1 more	Copy number gain	See cases	GUncertain significance
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 442425	GRCh37/hg19 2q36.1-37.3(chr2:222077224-239394441)x3	UGT1A8, UGT1A9 +113 more	Copy number gain	See cases	GPathogenic
Select item 442002	GRCh37/hg19 2q34-37.3(chr2:213518431-242783384)x3	AAMP, ABCA12 +225 more	Copy number gain	See cases	GPathogenic

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Items: 43