2172[Gene ID] - ClinVar

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Items: 36

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58118	GRCh38/hg38 5q32-35.3(chr5:149714592-181272151)x3	LOC132089226, LOC132089227 +1167 more	Copy number gain	See cases	GPathogenic
Select item 149231	GRCh38/hg38 5q33.1-34(chr5:152443869-166104392)x1	ADAM19, ADRA1B +295 more	Copy number loss	See cases	GPathogenic
Select item 58390	GRCh38/hg38 5q33.1-34(chr5:152761187-167248053)x1	ADAM19, ADRA1B +280 more	Copy number loss	See cases	GPathogenic
Select item 144365	GRCh38/hg38 5q33.3-35.3(chr5:156825512-181269805)x3	LOC129995440, LOC129995441 +864 more	Copy number gain	See cases	GPathogenic
Select item 1707452	Single allele	ADRA1B, ATP10B +111 more	Duplication	not specified	GUncertain significance
Select item 149967	GRCh38/hg38 5q33.3-34(chr5:158941354-164386760)x1	GABRA1, GABRA6 +108 more	Copy number loss	See cases	GPathogenic
Select item 2311510	NM_001040442.1(FABP6):c.14C>T (p.Thr5Met)	FABP6, FABP6-AS1 (T5M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 152417	GRCh38/hg38 5q33.3(chr5:160207321-160351176)x3	C1QTNF2, CCNJL +6 more	Copy number gain	See cases	GLikely benign
Select item 2229778	NM_001445.3(FABP6):c.22G>A (p.Glu8Lys)	FABP6 (E57K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 768048	NM_001445.3(FABP6):c.62T>A (p.Leu21His)	FABP6 (L70H +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 768049	NM_001445.3(FABP6):c.63C>T (p.Leu21=)	FABP6	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3091552	NM_001445.3(FABP6):c.78C>A (p.Ser26Arg)	FABP6 (S75R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2358607	NM_001445.3(FABP6):c.95C>T (p.Ala32Val)	FABP6 (A32V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2279022	NM_001445.3(FABP6):c.146C>A (p.Thr49Asn)	FABP6 (T98N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2473385	NM_001445.3(FABP6):c.167G>T (p.Gly56Val)	FABP6 (G105V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2362778	NM_001445.3(FABP6):c.180G>C (p.Met60Ile)	FABP6 (M109I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2470647	NM_001445.3(FABP6):c.221C>T (p.Thr74Ile)	FABP6 (T123I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3277033	NM_001445.3(FABP6):c.226G>A (p.Gly76Arg)	FABP6 (G76R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2460584	NM_001445.3(FABP6):c.265G>A (p.Gly89Arg)	FABP6 (G89R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2241037	NM_001445.3(FABP6):c.367G>C (p.Val123Leu)	FABP6 (V172L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1879644	GRCh37/hg19 5q33.3-34(chr5:156786013-162945369)x1	PTTG1, UBLCP1 +29 more	Copy number loss	not provided	GLikely pathogenic
Select item 1808993	GRCh37/hg19 5q33.3-34(chr5:159535230-161656766)x3	ATP10B, C1QTNF2 +11 more	Copy number gain	not provided	GUncertain significance
Select item 1808662	GRCh37/hg19 5q33.1-35.2(chr5:150535183-172906793)x3	ADAM19, ADRA1B +98 more	Copy number gain	not provided	GPathogenic
Select item 1703528	GRCh37/hg19 5q32-35.3(chr5:149010383-180719789)	ADAM19, ADAMTS2 +222 more	Copy number gain	Hunter-McAlpine craniosynostosis	GPathogenic
Select item 1339784	GRCh37/hg19 5q33.3-34(chr5:155970607-162450579)x1	ADAM19, ADRA1B +33 more	Copy number loss	not provided	Gnot provided
Select item 814758	GRCh37/hg19 5q33.3-34(chr5:159623973-160000962)x3	CCNJL, SLU7 +6 more	Copy number gain	not provided	GUncertain significance
Select item 814757	GRCh37/hg19 5q33.3-34(chr5:157801321-162780186)x1	GABRA1, PTTG1 +17 more	Copy number loss	not provided	GPathogenic
Select item 814756	GRCh37/hg19 5q33.3-35.1(chr5:156347980-169959880)x1	ADAM19, ADRA1B +51 more	Copy number loss	not provided	GPathogenic
Select item 684880	GRCh37/hg19 5q33.3-35.1(chr5:156597181-171166353)x3	C5orf52, ADAM19 +51 more	Copy number gain	not provided	GPathogenic
Select item 442431	GRCh37/hg19 5p15.1-q35.2(chr5:17628741-176575720)x1	DHFR, DHX29 +738 more	Copy number loss	See cases	GPathogenic
Select item 441920	GRCh37/hg19 5p15.33-q35.3(chr5:113577-180719789)	ABLIM3, ACOT12 +870 more	Copy number gain	See cases	GPathogenic
Select item 441919	GRCh37/hg19 5p15.33-q35.3(chr5:113577-180719789)x3	ABLIM3, ACOT12 +870 more	Copy number gain	See cases	GPathogenic
Select item 425542	GRCh37/hg19 5q15-35.3(chr5:94844077-178830410)x3	ARL10, ARL14EPL +511 more	Copy number gain	not provided	GLikely benign
Select item 394632	GRCh37/hg19 5q33.3(chr5:159624256-159781746)x3	C1QTNF2, CCNJL +1 more	Copy number gain	See cases	GLikely benign
Select item 394550	GRCh37/hg19 5q21.3-35.3(chr5:106716357-180687338)x3	HRH2, HSD17B4 +520 more	Copy number gain	See cases	GPathogenic
Select item 253504	GRCh37/hg19 5q33.2-35.1(chr5:154886174-169757448)x1	ADAM19, ADRA1B +50 more	Copy number loss	See cases	GPathogenic

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Items: 36